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Symptoms » Brain symptoms » Glossary
 

Glossary for Brain symptoms

Medical terms related to Brain symptoms or mentioned in this section include:

  • $2-Hydroxyglutaricaciduria$: A rare metabolic disorder characterized by high levels of a certain chemical (2-Hydroxyglutaric) which causes a serious progressive neurological disease and damage to the brain. The features of this disorder are variable and some cases are milder than others.
  • $3 alpha methylglutaconicaciduria, type 3$: A rare genetic condition where a gene mutation prevents the production of certain protein which leads to a build-up of an acid (3-methylglutaconic acid) which can have a negative impact on the body. The condition is characterized mainly by damage to the optic nerve.
  • $3-$: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • $3-Hydroxyisobutyric aciduria$: A rare inborn metabolic disorder which causes brain and facial anomalies, seizures and growth problems.
  • $6-pyruvoyl-tetrahydropterin synthase deficiency$: A rare genetic disorder where insufficient levels of tetrahydropterin leads to a build up of phenylalanine in the blood which can cause toxic side effects such as nerve damage or even brain damage. The condition does not usually cause any significant symptoms.
  • A ?-protein amyloidosis: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage. This particular form involves deposits of ?-proteins in the nerves resulting in Alzheimer's disease or around brain blood vessels which can cause strokes or brain bleeds.
  • ACAD9 deficiency: A metabolic disorder involving a deficiency of an enzyme (acyl-CoA dehydrogenase-9). The symptoms are variable and are usually triggered by a viral infection or ingestion of aspirin which can trigger a Reye-like episode which can cause death.
  • ADANE: A potentially fatal inherited neurological disease involving brain lesions. Symptoms tend to occur during childhood after an illness involving a fever. The disease is similar to Leigh syndrome but the course is acute rather than chronic.
  • AIDS-Related Opportunistic Infections: A term given to HIV patients who have a low CD4 count (below 200) which means that they have low levels of a type of immune cell called T-cells. AIDS patients tend to develop opportunistic infections and cancers. Opportunistic infections are infections that would not normally affect a person with a healthy immune system. The HIV virus is a virus that attacks the body's immune system.
  • Aase Smith syndrome: A rare hereditary syndrome characterized by deformities such as cleft palate, joint contractures and hypoplastic anemia.
  • Abetalipoproteinemia: A rare genetic disorder involving fat metabolism. The disorder is also known as Bassen-Kornzweig syndrome. Signs of the disease include acanthocytosis, little or no serum beta-lipoproteins and hypocholesterolemia. In severe cases, steatorrhea, ataxia, nystagmus, motor incoordination and retinitis pigmentosa may also occur.
  • Acanthamoeba: Several conditions from infection with ameba.
  • Accelerated hypertension: Accelerated hypertension is a condition characterized by a rapid increase in blood pressure. The condition is a medical emergency which can cause organ damage if not treated promptly.
  • Accutane - Teratogenic Agent: There is strong evidence to indicate that the use of Accutane during pregnancy may cause a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Acrocallosal Syndrome (Schinzel Type): A rare condition characterized by absence of portion of the brain (corpus callosum), mental deficiency, duplicated toes, mental deficiency and other abnormalities.
  • Acrocephalopolydactyly: A rare genetic condition characterized by limb abnormalities, extra digits and hydrocephalus. Other additional symptoms are variably present.
  • Acrocephalosyndactyly Syndrome type 5: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrocephalosyndactyly type 5 (ACPS 5): A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrodynia: A disease occurring in infants or young children. Symptoms include edema, pruritis, skin rash, extremities are pink, cheeks and nose are scarlet, profuse sweating, digestive disturbance, photophobia, polyneuritis, irritability, listlessness, apathy and failure to thrive.
  • Acrofrontofacionasal dysostosis syndrome: A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present.
  • Acutane embryopathy: A rare disorder caused by fetal exposure to retinoids and resulting in mental and physical birth defects.
  • Acute Disseminated Encephalomyelitis: A type of encephalitis that usually follows an acute viral infection and involves an immune attack on myelin tissue which is part of the nervous system. Initial symptoms include fever, headache, vomiting and drowsiness followed by seizures, coma and paralysis. Often results in permanent neurological disorders.
  • Acute Pesticide poisoning - xylene: Xylene is an ingredient used in certain insecticides. Exposure to the chemical can cause a range of symptoms depending on the level and route of exposure. Exposure can occur through inhalation, ingestion, the skin or eyes. Acute exposure involves a exposure over a short period of time whereas chronic exposure occurs over a longer period of time.
  • Acute fatty liver of pregnancy: A rare complication of pregnancy that can occur in the second half of the pregnancy. It is characterized by excessive fatty deposits in the liver which can be fatal without prompt diagnosis and treatment which involves delivering the baby as soon as possible.
  • Acute hemorrhagic leukoencephalitis: A rare degenerative brain disease where the patient suffers edema, many small hemorrhages, necrosis of blood vessel walls, demyelination of nerve fibers. Histiocytes, lymphocytes and neutrophils also enter the meninges. Symptoms include severe headache, fever, vomiting and sometimes convulsions and unconsciousness. Also called acute hemorrhagic leukoencephalitis.
  • Acute respiratory distress syndrome, Infant: A breathing disorder that occurs in infants. The underdeveloped lungs fail to functioning adequately and the body becomes deprived of oxygen. The condition is more likely to affect premature infants and the greater the prematurity, the greater the risk.
  • Acute vitamin A toxicity: Acute ingestion of vitamin A can cause symptoms. Symptoms usually only last for a day or two.
  • Acyclovir - Teratogenic Agent: There is strong evidence to indicate that exposure to Acyclovir during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Addington disease: An epidemic disease which resembles polio and was first recorded in South Africa. The range and severity of symptoms experienced is variable and the disease may persist from a week to 3 months in some cases.
  • Adducted thumbs - arthrogryposis, Christian type: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Adenoviridae Infections: Infection with a virus from the Adenoviridae family. The most common sites for infection are membrane linings such as the intestines, respiratory and urinary tract and the eyes. The infection may result in a range of symptoms depending on the particular virus involved. Transmission usually occurs through breathing in the germs or through fecal-oral contact. The infection is contagious.
  • Adenovirus infection in immunocompromised patients: Infection with a virus from the Adenoviridae family that occurs in a patient with a weakened immune system. The infection in these people is serious and can be fatal. The infection may result in a range of symptoms depending on the particular virus involved. Transmission usually occurs through breathing in the germs or through fecal-oral contact.
  • Adhesive abuse: Adhesive abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Adhesives include household glues, rubber cement and model aeroplane glue. These adhesives can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
  • Adhesive addiction: Adhesive addiction refers to the compulsive need to abuse adhesives (e.g. sniffing them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Aerosols are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Adhesives includes household glue, rubber cement and model airplane glue.
  • Adrenoleukodystrophy: A rare hereditary metabolic disease that only occurs in male children and is characterized by adrenal atrophy and extensive cerebral demyelination causing progressive loss of mental functioning, aphasia, apraxia and sometimes blindness. The patient usually dies within 5 years.
  • Adrenomyeloneuropathy: A form of X-linked adrenoleukodystrophy characterized by spinal cord dysfunction and brain involvement may or may not be present. Those with brain involvement suffer serious symptoms that can eventually lead to total disability and even death.
  • Adult-onset ALD: Form of ALD in adults.
  • Aerosol abuse: Aerosol abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Aerosols include air fresheners, hair spray, spray pain and deodorants. These aerosols can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
  • Aerosol addiction: Aerosol addiction refers to the compulsive need to abuse aerosol (e.g. sniffing them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Aerosols are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Aerosols includes spray pain, air freshener, deodorants and hair sprays.
  • African Sleeping sickness: A disease caused by parasites (Trypanosome brucei gamiense or T. brucei rodesiense) and transmitted to humans by the tsetse fly which is found only in Africa. Causes symptoms such as fever, chills, headache, anemia, edema of hands and feet, enlarged lymph glands, lethargy, sleepiness, convulsions and coma. Also called African trypanosomiasis and sleeping sickness.
  • Agenesis of the corpus callosum: Congenital absence of connective part of the brain.
  • Aicardi-Goutieres syndrome: A rare inherited progressive disease that affects the brain and immune system.
  • Aicardi-Goutieres syndrome 1: A rare inherited progressive disease that affects the brain and immune system. Type 1 is caused by a defect on chromosome 3p21.3-p21.2.
  • Aicardi-Goutieres syndrome 2: A rare inherited progressive disease that affects the brain and immune system. Type 2 is caused by a defect on chromosome 13q14-q21.
  • Aicardi-Goutieres syndrome 3: A rare inherited progressive disease that affects the brain and immune system. Type 3 is caused by a defect on chromosome 11q13.2.
  • Aicardi-Goutieres syndrome 4: A rare inherited progressive disease that affects the brain and immune system. Type 4 is caused by a defect on chromosome 19p13.13.
  • Aicardi-Goutieres syndrome 5: A rare inherited progressive disease that affects the brain and immune system. Type 5 is caused by a defect on chromosome 3p21.3-p21.2.
  • Al Murrah-induced lead poisoning: Al Murrah is a folk remedy used mainly by Saudi Arabian people to treat problems such as stomach pain, diarrhea and colic. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Alarcon-induced lead poisoning: Alarcon is a folk remedy used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Albayaidle-induced lead poisoning: Albayaidle is a folk remedy used mainly by Mexican and Central American people to treat digestive or stomach problems such as vomiting and colic. It is also used to treat apathy and lethargy. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Albayalde-induced lead poisoning: Albayalde is a folk remedy used mainly by Mexican and Central American people to treat digestive or stomach problems such as vomiting and colic. It is also used to treat apathy and lethargy. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Alcohol abuse: Excessive alcohol as a symptom of other conditions
  • Alexander Syndrome: Brain myelin disorder causing mental degeneration.
  • Allergic encephalomyelitis: An autoimmune brain and spinal cord disease that can be induced in laboratory animals in experimental settings. The disease involves inflammation and degeneration of nerve myelin sheaths and it may be acute or chronic.
  • Alpha-ketoglutarate dehydrogenase deficiency: A metabolic disorder characterized by a deficiency of Alpha-ketoglutarate dehydrogenase which results in high levels of oxoglutaric acid in the urine as well as other severe symptoms.
  • Alpha-mannosidosis type II: A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage. This form of the condition is less severe than type I (infantile form).
  • Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
  • Alveolar Hydatid Disease: Rare multi-organ tapeworm infection caught from animals.
  • Alès dysfibrinogenemia: A rare inherited disorder characterized by abnormal fibrinogen which is a protein essential to the blood clotting process. The Alès type was discovered in Alès.
  • Amebic dysentery: Intestinal inflammation caused by Entamoeba histolytica and often marked by symptoms such as frequent, loose bowel movements that contain blood and mucus. Also called intestinal amebiasis.
  • American mountain fever: A viral disease transmitted through the bite of ticks (Rocky Mountain wood tick and American dog tick) who are infected with the virus. Because the virus infects blood cells including erythrocytes, transmission can also occur through transfusion with infected blood but this is uncommon. Infection is most common in Canada and parts of western US. The incubation period usually lasts between 3 and 6 days but can be as long as a few weeks. The virus tends to cause to periods of fever each lasting for a few days.
  • Aminoacidopathies: Any of a group of inborn errors of metabolism which results in the build up in the body of one or more amino acids in the blood and/or urine. The range and severity of symptoms is hugely variable.
  • Aminopterin - Teratogenic Agent: There is strong evidence to indicate that exposure to ? during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Aminopterin and methotrexate - Teratogenic Agent: There is strong evidence to indicate that the use of Aminopterin and methotrexate during pregnancy may cause a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Amitriptyline - Teratogenic Agent: There is strong evidence to indicate that exposure to Amitriptyline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Amlodipine - Teratogenic Agent: There is strong evidence to indicate that exposure to Amlodipine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Amoebiasis: An infectious disease caused by a free-living amoebic parasite called Entamoeba histolytica. The organism infects the bowel and causes gastroenteritis. Infection occurs through ingesting contaminated food or water. It is more common in countries with poor sanitation. The incubation period may last from days to weeks before symptoms appear.
  • Amphetamine - Teratogenic Agent: There is strong evidence to indicate that exposure to Amphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Amphetamine abuse: Use of the stimulant drugs known as amphetamines or "speed"
  • Amyloid angiopathy: A blood vessel disorder caused by abnormal amyloid deposits in the blood vessel walls of the brain. The deposits can cause the blood vessel to become weak and rupture resulting in intracranial bleeding. Despite the potentially serious consequences the disorder is often asymptomatic until old age.
  • Amyloidosis VI: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In the Icelandic type, the amyloid deposits affect the brain blood vessels and cause hemorrhages.
  • Amyloidosis VII: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In the Ohio type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunction, brain hemorrhages as well as vision impairment.
  • Amyloidosis, oculoleptomeningeal: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In this particular type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunction, brain hemorrhages and vision impairment.
  • Andersen disease: An rare inborn error of metabolism involving glycogen storage and characterized by cirrhosis and sometimes liver failure. Lack of the amyl-transglucosidase enzyme and abnormal glycogen causes the condition.
  • Aneurysm: Swelling or ballooning of part of an artery
  • Aneurysm, intracranial berry: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms.
  • Aneurysm, intracranial berry, 1: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 1 is caused by a defect on chromosome 7q11.2.
  • Aneurysm, intracranial berry, 2: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 2 is caused by a defect on chromosome 19q13.
  • Aneurysm, intracranial berry, 3: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 3 is caused by a defect on chromosome 1p36.13-p34.3.
  • Aneurysm, intracranial berry, 4: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 4 is caused by a defect on chromosome 5p15.2-14.3.
  • Aneurysm, intracranial berry, 5: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 5 is caused by a defect on chromosome 2p13.
  • Aneurysm, intracranial berry, 6: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are now six different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases an individuals risk for developing intracranial berry aneurysms. Type 6 is caused by a defect on chromosome 9p21.
  • Aneurysm, intracranial berry, 7: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 7 is caused by a defect on chromosome 11q24-q25.
  • Aneurysm, intracranial berry, 8: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 8 is caused by a defect on chromosome 14q23.
  • Angelman-Like Syndrome, X-linked: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
  • Angioma hereditary neurocutaneous: A rare genetic condition characterized angiomas involving both the skin and nervous system.
  • Angioneurotic Edema: Involves swelling of deep skin layers and fatty tissues under the skin as well as the mucous membrane. The condition involves recurrent swelling of tissues, abdominal pain and swelling of the voice box. It is often caused by an allergic reaction to drugs or food. It is also called Quincke's disease, giant urticaria, Quincke's edema or angioedema.
  • Anophthalmia - hypothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
  • Anophthalmia - hypyothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
  • Anthrax: A serious infectious bacterial disease that can be fatal.
  • Antiphospholipid syndrome: An autoimmune disorder characterized by blood clots and pregnancy losses.
  • Aorta conditions: Conditions that affect the aorta
  • Arachnoid Cysts: A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the spinal cord and brain. The type and severity of symptoms is determined by the size and location of the cyst.
  • Arbovirosis: An infectious disease caused by an arbovirus. The virus is transmitted by arthropods such as insects and ticks. Examples of arboviruses include Yellow Fever, Japanese encephalitis and tick-borne encephalitis. The symptoms may vary depending on the type of virus involved. The infection can lead to life-threatening brain inflammation.
  • Argentinean hemorrhagic fever: An infectious disease caused by the Junin virus. Transmission can occur through contact with infected rodent (usually the corn mouse) urine, feces or saliva. The incubation period lasts from one to two weeks. The disease is most common in rural workers in Argentina.
  • Argininosuccinase lyase deficiency, neonatal: A rare inherited urea cycle disorder caused by lack of enzymes (argininosuccinase lyase) needed to turn ammonia into urea resulting in excess ammonia in the body. The neonatal form of the condition can result in death or severe complications if not treated early enough.
  • Arginninosuccinic acid synthetase deficiency:
  • Arnold-Chiari malformation type 2: A rare malformation where the base of the brain enters into the upper spinal canal. The extent of the deformity is greater in type 2 than type 1 and hence the symptoms are more severe and are often associated with a myelomeningocele (opening of the spine and spinal cord).
  • Arnold-Chiari malformation type 3: An extremely rare malformation where the base of the brain enters into the upper spinal canal. Type 3 involves the herniation of brain or brain stem tissue out of the back of the neck or head. The condition generally has a poor prognosis.
  • Arteriosclerosis Obliterans: Arteriosclerosis that results in the narrowing and gradual blockage of the artery. Arteriosclerosis involves the deposition of cholesterol plaques and other material on the inside of the artery walls. The symptoms will depend on the location of the arteries affected and how severe the blockage is.
  • Aseptic meningitis: The occurrence of symptoms consistent with meningitis without the location of a causative organism
  • Aspergillosis: Infection with a fungus called Aspergillus.
  • Asphyxia neonatorum: Respiratory failure in a newborn.
  • Ataxia - hypogonadism - choroidal dystrophy: A very rare disorder characterized by spinocerebellar ataxia, eye abnormalities and a failure of the pituitary to stimulate gonadal development during puberty.
  • Ataxia, spastic, 3, autosomal recessive: A recessively inherited disorder characterized mainly by spasticity and ataxia.
  • Atherosclerosis: A condition which is a form of arteriosclerosis where atheromas are caused by the aggregation of cholesterol and lipids
  • Atrial fibrillation: A rhythm disturbance of the heart that results in irregular and chaotic ventricular contractions.
  • Ausrian triad: The association of pneumococcal pneumonia, meningitis and endocarditis.
  • Autoimmune Diseases of the Nervous System: A group of diseases where the body's immune system attacks it's own nervous system. Examples includes opsoclonus myoclonus syndrome, Guillain-Barre syndrome and multiple sclerosis. Symptoms vary depending on which nerves are involved.
  • Autoimmune Thrombocytopenia: Autoimmune disorder causing a lack of blood platelets.
  • Autoimmune limbic encephalitis: Limbic encephalitis is an inflammation of the limbic system which is the part of the brain responsible for basic autonomic functions. In the paraneoplastic type, the inflammation is caused by autoimmune processes.
  • Autonomic Dysreflexia: A complication of spinal cord injury where a particular stimulus can trigger an excessive response from the autonomic nervous system which causes blood pressure to rise - sometimes to dangerous levels. Stimuli that can trigger the response include bladder irritation, bowel irritation (e.g. due to constipation, gas, enema), skin irritation (e.g. due to burns, pressure sores, ingrown toenails), broken bones, tight clothing, labour and temperature extremes. The severity and frequency of the condition is highly variable. The condition occurs in patients with tetraplegia or with loss of sensation above the lower rib cage.
  • Autosomal Recessive Tetra-Amelia: A rare disorder characterized by the absence of all four extremities as well as skeletal, nervous system, craniofacial and other abnormalities. The condition is causes death before or soon after birth.
  • Axial mesodermal dysplasia spectrum: A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
  • Azarcon-induced lead poisoning: Azarcon is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • BANF acoustic neurinoma: A type of tumor that affects hearing and is associated with a condition called BANF (bilateral acoustic neurofibromatosis). The tumor is benign an occurs in the cells that form the myelin sheath of the vestibulocochlear nerve. The symptoms vary depending on the size and exact location of the nerve. The tumor may become large enough to compress against various cranial nerves or even the brainstem.
  • BBB syndrome, X-linked: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner. Females with type I tend to have few if any symptoms - often the only symptom is wide-set eyes.
  • BOR-Duane hydrocephalus contiguous gene syndrome: A very rare syndrome characterized primarily by an eye movement disorder (Duane syndrome), abnormal trapezius muscle (runs from neck to shoulder), hydrocephalus and BOR syndrome (branchio-oto-renal syndrome with branchial, eye and kidney abnormalities).
  • Ba Bow Sen-induced lead poisoning: Ba Bow Sen is a folk remedy used mainly by Chinese people to treat childhood hyperactivity and to alleviate nightmares. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Bacteremia: A condition where bacteria is present in the blood.
  • Bacterial endocarditis: Infection and inflammation of the inner layers of the heart, most commonly the valves cause by bacteria.
  • Baker-Vinters syndrome: A very rare syndrome characterized by premature fusion of skull bones, hydrocephalus and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles.
  • Bali goli-induced lead poisoning: Bali goli (flat black bean) is a folk remedy used mainly by Indian and Asian people to treat intestinal problems. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Ballantyne-Runge syndrome: A pregnancy that goes over the normal gestation term of 42 weeks. The greatest problem with prolonged gestation is the fact that the placenta may shrink and be unable to supply the fetus with sufficient oxygen and nutrients. In extreme cases, the fetus may lose weight or suffer problems from chronic oxygen shortage.
  • Balo's concentric sclerosis: Demyelination of the brain producing a variety of symptoms depending on the area of the brain affected.
  • Baló disease: A very rare, rapidly progressive form of multiple sclerosis (inflammatory disease of the brain and spinal cord). The type, severity and rate of progression of symptoms depends on the area of the brain affected.
  • Baraitser-Winter syndrome: A rare syndrome characterized by a structural eye defect, droopy eyelids and mental retardation.
  • Barotrauma: Damage to the lungs, ear or sinuses caused by rapid or extreme changes in air pressure.
  • Bartonella: A class of bacteria that can infect humans at a range of different sites. The most well known is Cat Scratch Disease, caused by B.henselae.
  • Bartonella infections: Infection with bacteria from the Bartonella genus of bacteria. Specific bacteria from within this group are Bartonella bacilliforms (Oroya fever), Bartonella Heneslae (Cat-scratch disease). Other conditions caused by this bacteria are endocarditis, bacteremia and angiomatosis. Symptoms vary depending on the type of bacteria involved and the severity of the infection - immunocompromised patients face greater risk of severe infection.
  • Bartonellosis: An infection by Bartonella bacilliformis which is transmitted through sandfly bites. Symptoms include fever, severe anemia, bone pain and skin lesions. Also called Carrion's disease, Oroya fever or verruga peruana.
  • Basilar impression primary: A congenital bone abnormality where the skull and vertebrae meet which can compress some of the brain structures and result in neurological abnormalities. The defect is often associated with other vertebral abnormalities. In severe cases, the cerebrospinal fluid flow may be obstructed which can cause fluid to build up inside the skull (hydrocephalus).
  • Beemer-Ertbruggen syndrome: A rare lethal syndrome characterized primarily by hydrocephalus, heart malformations, and increased bone density. Only a couple of cases have been reported.
  • Behcet's Disease: Recurring inflammation of small blood vessels affecting various areas.
  • Benadryl - Teratogenic Agent: There is evidence to indicate that exposure to Benadryl during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification: A very rare syndrome characterized primarily by brain aneurysms, liver cirrhosis, pulmonary emphysema and calcification of the brain (cerebrum).
  • Bessman-Baldwin syndrome: A rare disorder characterized by degeneration of the brain and the macula of the eye.
  • Biemond syndrome type 2: A rare inherited condition characterized by mental retardation, obesity, polydactyly and underdeveloped genitals.
  • Bing-Neel syndrome: A rare disorder involving infiltration of the central nervous system by abnormal leukemia-like cells (lymphoplasmocytoid cells) that occur in Waldenström's macroglobulinemia. The abnormality increases blood viscosity which impairs its circulation through small brain and eye blood vessels.
  • Binswanger's Disease: A type of senile dementia characterized by chronic cerebrovascular disease.
  • Bint Al Zahab-induced lead poisoning: Bint Al Zahab is a folk remedy used by various ethnic groups (e.g. Indians, Saudi Arabians) to treat infant colic and to facilitate the passage of meconium in newborns. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
  • Birth symptoms: Symptoms related to childbirth.
  • Blastoma: A type of tumor that originates from precursor cells or blasts (immature or embryonic tissue). The symptoms can vary greatly and are determined by the part of the body that is affected. Blastomas can occur in parts of the body such as the brain, liver, kidneys, nervous system, bones and the retina.
  • Blastomycosis: A fungal infection caused by Blastomyces dermatitidis and resulting in lung, skin, bone and genitourinary involvement.
  • Bleeding in the brain: A condition which is characterized by the abnormal loss of blood from blood vessels located in the brain
  • Bobble-head doll syndrome: A rare condition where a child's head bobs up and down continuously due to either fluid on the brain or a large cyst in the third ventricle of the brain.
  • Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency: A rare inherited connective tissue disorder caused by a deficiency of a blood coagulation factor.
  • Bokhoor-induced lead poisoning: Bokhoor is a traditional used mainly by Saudi Arabian people to calm infants - it involves burning wood and lead sulphide and inhaling the fumes that are produced. This practice has the potential to cause lead poisoning due to the relatively high exposure to lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Bolivian hemorrhagic fever: An infectious disease that occurs in Bolivia and is caused by the Machupo virus. Transmission can occur through contact with infected rodent (Calomys callosus) droppings. The incubation period lasts from one to two weeks.
  • Bone marrow failure - neurologic abnormalities: A rare syndrome characterized by the association of bone marrow failure and neurological abnormalities.
  • Bonnemann-Meinecke-Reich syndrome: A rare disorder characterized mainly by growth problems, vision problems and brain disease.
  • Bornholm disease: Contagious viral infection
  • Botulism food poisoning: Extremely dangerous food poisoning requiring medical attention, but not always recognized because of its non-abdominal symptoms.
  • Boutonneuse fever: An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and the incubation period is usually between 6 and 10 days.
  • Braddock Jones Superneau syndrome: A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the brain and interferes with the movement of fluid through the brain resulting in an accumulation of fluid.
  • Brain abscess: abscess in the brain may involve any of the lobes of the brain
  • Brain atrophy: A condition which is characterized by a diminution in the size of the brain
  • Brain compression: Internal compression of the brain
  • Brain damage: A condition which is characterized by damage to the brain resulting in a decrease in function
  • Brain disturbance:
  • Brain malformation - congenital heart disease - postaxial polydactyly: A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers.
  • Brain swelling: Swelling or enlargement of the brain
  • Brain symptoms: Symptoms affecting the brain
  • Brain tumor: A condition which is characterized by the abnormal growth of tissue within the brain
  • Bromocriptine - Teratogenic Agent: There is strong evidence to indicate that exposure to Bromocriptine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Bronchopulmonary dysplasia: A condition which is characterized by dysplasia of the brochopulmonary vessels
  • Brown snake poisoning: The Brown snake is a poisonous Australian snake. They are considered one of the most venomous snakes in the world and their bite can result in death without prompt medical attention. The snake venom contains toxins which affect the blood and nerve systems. Children tend to suffer more severe symptoms due to their smaller body size.
  • Brown-Symmers disease: A rare form of brain inflammation that occurs in children and can quickly lead to death. Symptoms usually start suddenly.
  • Brucellosis: An infectious disease caused by the Brucella genus which is transmitted from animals to humans.
  • Bruch's disease: An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and the incubation period is usually between 6 and 10 days.
  • Budd chiari syndrome: A disorder where the main vein leaving the liver becomes blocked leading to symptoms such as liver enlargement and fluid buildup in the abdomen. Also called Chiari's syndrome or Rokitansky's disease.
  • Budesonide - Teratogenic Agent: There is strong evidence to indicate that exposure to Budesonide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • CACH syndrome: A rare syndrome characterized mainly by childhood ataxia and reduced myelination of the cerebral nerves. Motor and mental development in the first few years of life is normal with progressive neurodegeneration occurring between 2 and 5 years of age. Fever and trauma to the head can speed up disease progression.
  • CAMFAK syndrome: A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature.
  • CDG syndrome (generic term): Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. The main symptom in all the disorders is psychomotor retardation but other variable symptoms also occur depending on the subtype of the disorder.
  • CDG syndrome type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • CDG syndrome type 3: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 3 has variable symptoms.
  • CDG syndrome type I: A rare genetic disorder where the body is unable to synthesize glycoproteins which results in multisystem problems.
  • CFS subtype 7 (pain, infectious, musculoskeletal, sleep, neurological, gastrointestinal, neurocognitive, anxiety/depression): Chronic fatigue syndrome is a chronic condition which is characterized by symptoms such as severe persistent fatigue, depression, weakness, muscle pain and lack of energy. The condition is often debilitating and may be difficult to diagnose due to lack of specific tests for the condition. There is no known cause but it appears to be associated with a previous infection in some cases. CFS subtype 7 tends to be more severe with the dominant symptoms being pain, infections, anxiety, depression and musculoskeletal, sleep, neurological, gastrointestinal and neurocognitive problems.
  • CMV antenatal infection: A rare condition where a fetus becomes infected with the cytomegalovirus through the mother.
  • Cadasil: A rare inherited condition which affects the small blood vessels of the brain. Damage to the vessels causes strokes and other problems.
  • California encephalitis: An uncommon mosquito born virus (California encephalitis virus) which can cause brain inflammation in humans. The severity of symptoms is variable. The incubation period can last from a few days to a week. Infants and children tend to be more severely affected than adults who sometimes have no obvious symptoms.
  • Campomelic dwarfism: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
  • Campomelic dysplasia: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
  • Camptomelic dysplasia I: A rare condition characterized by dwarfism due to bowed shin and thigh bones.
  • Camptomelic dysplasia II: A rare condition characterized by dwarfism due to bowed shin and thigh bones which tend to be shorter and wider than normal.
  • Campylobacter fetus infection: Campylobacter fetus is a food borne bacterial infection which may vary in severity from mild to severe. The bacteria are opportunistic and mainly affect debilitated patients but can also occur in healthy patients. Abortion due to blood infection in the fetus can occur in pregnant women who become infected. The infection is less likely to cause gastrointestinal symptoms such as diarrhea than other Campylobacter infections but is prone to causing infection in other parts of the body such as the appendix, abdominal cavity, central nervous system (meningitis), gallbladder, urinary tract and blood stream. Cattle and sheep are the main source of this bacteria.
  • Campylobacter food poisoning: Common bacterial infection usually from chicken.
  • Campylobacter jejuni infection: Campylobacter jejuni infection is a common food borne bacterial infection which may vary in severity from mild to severe. Death can occur in severe cases but tends to occur in patients with other existing illnesses such as HIV, cancer or liver disease. The infection can in rare cause infection in other parts of the body such as the appendix, abdominal cavity, central nervous system (meningitis), gallbladder, urinary tract and blood stream. Undercooked chicken is the main source of infection.
  • Canavan leukodystrophy: A rare inherited disorder where a chemical imbalance in the brain leads to spongy degeneration of the central nervous system which results in progressive mental deterioration and associated symptoms.
  • Capnocytophaga: A bacterial infection caused by Capnocytophaga canimorsus which is often found in normal healthy cats and dogs. The infections tends to occur mainly in immunocompromised patients, alcoholics or patients who have chronic respiratory disease or have had their spleen removed. The eyes are particularly sensitive to this infection. The incubation period can be as long as eight days.
  • Carbamoyl-phosphate synthase 1 deficiency: A very rare inherited urea cycle disorder where the lack of the enzyme carbamoyl phosphate synthetase prevents ammonia from being turned into urea and being excreted in the urine. Excess ammonia builds up in the body which can cause serious complications or even death if left untreated.
  • Carbon Monoxide - Teratogenic Agent: There is strong evidence to indicate that exposure to Carbon Monoxide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency: A very rare inherited metabolic disorder where the body doesn't have enough of an enzyme called cytochrome C oxidase (COX) which is needed in the process of energy production by body cells. The fatal infant type generally affects the hear, brain and kidneys as well as the muscles.
  • Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by short stature, congenital heart defects skin anomalies and frontal bossing.
  • Cardiovirus: A viral disease caused by a virus from the Picornaviridae famiy. Any vertebrate can become infected though humans rarely are.
  • Carnitine palmitoyl transferase 1 deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase I) prevents fatty acids being transported to the part of the cell that converts it to energy.
  • Carnitine palmitoyl transferase 2 deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase) which prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life.
  • Carnitine palmitoyl transferase II deficiency, lethal neonatal form: A very rare metabolic disorder where deficiency of a particular enzyme (CPT II) prevents muscle fats being converted to energy. The lethal neonatal form affects various organs as well as the muscles and death usually occurs during the first year of life.
  • Carnitine palmitoyl transferase deficiency: A very rare inherited deficiency of a particular enzyme (Carnitine palmitoyl transferase) which prevents fatty acids being transported to the part of the cell that converts it to energy. There are two main subtypes of the disorder with each involving a slightly different form of the enzyme. Type I can be readily managed through diet. Type II has three subtypes: the myopathic form affects mainly the muscles; the hepatocardiomuscular form affects the liver and heart muscle; and the lethal neonatal form affects muscles and organs and usually results in death during the first year of life.
  • Carnitine transporter deficiency: An inherited deficiency of carnitine caused by the impaired ability of the carnitine transporter protein to carry the carnitine to where it is needed. Instead the carnitine is excreted through the urine. Fasting or illness can trigger a severe attack.
  • Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia.
  • Catastrophic Antiphospholipid Syndrome: A very rare disorder where the blood clotting system becomes dysfunctional and clots too easily due to the abnormal presence of antphospholipid antibodies. It results in blood flow blockages to various body organs. It is possible that the condition has autoimmune origins. The disorder is often triggered by infections, certain drugs (e.g. anticoagulants), minor surgery and hysterectomy.
  • Cavernous hemangioma: A harmless proliferation of blood vessels which form a tumor-like mass of blood filled spaces which can occur anywhere in the body and is present at birth or develops soon after. It occurs in deeper layers of the skin as opposed to the top skin layers and the color may vary according to the depth of the lesion.
  • Cebagin-induced lead poisoning: Cebagin is a folk remedy used mainly by Middle Eastern people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Cellulitis: inflammation of the subcutaneous fat
  • Cennamo-Gangemi syndrome: A rare syndrome characterized by small eyes, congenital cataracts and hydrocephalus (buildup of fluid in the brain).
  • Central nervous system protozoal infections: A protozoal infection of the central nervous system (spinal cord or brain). The infection may originate in the central nervous system (primary infection) or may spread from another part of the body (secondary infection). The infection may occur in otherwise healthy individuals or in individuals who have a compromised immune system. Primary protozoal CNS infections include cerebral amebiasis, granulomatous amebic encephalitis and secondary infections include cerebral malaria and cerebral babesiosis.
  • Cerebellar ataxia - intellectual deficit - optic atrophy - skin abnormalities: A rare syndrome characterized by ataxia, mental retardation, optic atrophy and skin abnormalities.
  • Cerebellar ataxia, autosomal recessive: A group of rare, recessively inherited neurological disorders caused by abnormalities in the cerebellum and spinal cord. In some cases other parts of the body may be affected.
  • Cerebellar atrophy with progressive microcephaly: A very rare disorder characterized mainly by a small brain, small head, underdeveloped brain, brain degeneration, contractures, eye problems and seizures.
  • Cerebellum agenesis - hydrocephaly: A rare brain disorder which manifests as reduced muscle tone, ataxia, cataracts and mental retardation.
  • Cerebral Amyloid Angiopathy, Familial: A rare disorder where abnormal deposits of amyloid in the brain blood vessels causes spasticity, incoordination and dementia. Brain hemorrhage and strokes may also result in severe cases.
  • Cerebral Arteriosclerosis: Hardening or blockage of arteries in the brain.
  • Cerebral astrocytoma, adult: A very rare tumor that occurs in adults and develops in brain cells called astrocytes. The part of the brain involved is the cerebrum at the top of the head which controls functions such as reading, writing, thinking, learning, speech, emotion and voluntary movement.
  • Cerebral cavernous malformations: A rare disorder where a group of small abnormal blood vessels in the brain. These blood vessels become enlarged, irregularly shaped and thin walled. They swell when filled with blood and are then often unable to return to their original shape and the thin walls means that they can leak blood and cause bleeding in the brain. Severity of symptoms depends on the number and location of the lesions.
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome: A rare disorder characterized by abnormal brain development, neurological problems, scaly skin and thickened skin on the palms and soles.
  • Cerebral gigantism - jaw cysts: A very rare syndrome characterized mainly by abnormal brain development and jaw cysts.
  • Cerebral hemorrhage: Bleeding in the brain
  • Cerebral hemorrhage with amyloidosis, hereditary, Dutch type: An inherited condition characterized mainly by brain hemorrhage and amyloid deposits in the brain blood vessels. The size and location of the hemorrhage determines the severity of symptoms. The condition was first described in a Dutch family.
  • Cerebral sarcoma: A type of brain tumor that can be inherited in an autosomal dominant manner. The tumor arises from blood vessels in the brain. Symptoms may vary depending on the size and exact location of the tumor.
  • Cerebral ventricle neoplasm: A tumor that occurs in the fluid-filled spaces of the brain called the ventricles. Symptoms vary depending on the size and exact location of the tumor and whether it is cancerous or not.
  • Cerebrovascular symptoms: Symptoms related to the brain's arteries
  • Ceroid lipofuscinosis, neuronal 10: A rare metabolic disorder that affects the nerve cells of the body and is characterized by the deposits of lipopigments (lipofuscin). Type 10 involves a deficiency of cathepsin D and involves an initial period of normal development with neurodegenerative symptoms starting during the early school years.
  • Chagas disease: A parasitic infection caused by the protozoa Trypanosoma cruzi and transmitted by insect bites or blood transfusions. The disease primarily involves the heart and gastrointestinal system.
  • Chediak-Higashi like syndrome: A rare genetic disorder characterized mainly by albinism (lack of pigmentation). There are three different subtypes of the disorder (I, II and III) each with varying additional features such as immunodeficiency and neurological symptoms. Type 1 involves partial albinism and neurological symptoms, type II involves partial albinism, immunodeficiency and sometimes neurological symptoms and type III involves albinism only.
  • Chemical poisoning - 1,4-Dioxane: 1,4-Dioxane is a chemical used mainly as a reagent in laboratries and as a solvent in chemical processing. The chemical is readily absorbed through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning - Acetylsalicylic Acid: Acetylsalicylic Acid is also known as aspirin and is primarily used to relieve pain, fever and inflammation. Excessive exposure to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning - Allethrin: Allethrin is a chemical used as an insecticide, mainly in households. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning - Aluminum: Aluminum is a chemical used mainly for metallurgical purposes and can be found in packaging, electrical parts, vehicles, cooking utensils, construction materials and building components. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning - Ammonium Bifluoride: Ammonium Bifluoride is a chemical used wheel cleaners, herbicides and in the manufacture of magnesium. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning - Anticoagulant rodenticide: Anticoagulant rodenticide is a chemical used to control rodents. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning - Antifreeze: Antifreeze is used in vehicles to prevent freezing or boiling over of the cooling system. The chemicals (methanol, ethylene and propylene glycol) in the antifreeze can cause severe poisoning symptoms if ingested. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning - Chloromethane: Chloromethane is a chemical used mainly in the production of silicones as well as agricultural chemicals, butyl rubber and other products. Ingestion and other exposures to the chemical can cause various symptoms. The chemical is readily absorbed through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning - Ethylene Glycol: Ethylene Glycol is a chemical used mainly in antifreeze, coolants and as a solvent. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure. Symptoms tend to occur in three phases: the first 12 hours involves inebriation, seizuresand brain swelling; the second and third day involves deterioration of lung and heart function and the third stage involves kidney damage and possibly failure. Death can occur during any of the stages.
  • Chemical poisoning - Glaze: Glazes are used to put a shiny finish on various surfaces such as pottery. Glazes contain chemicals such as lead and zinc oxide which can cause serious symptoms if sufficient quantities are eaten. The chemicals cause damage to the gastrointestinal lining and the damage may continue for weeks after the poison was ingested. Death can result in severe cases. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning - Hair Dye: Hair dyes contain chemicals which can cause serious symptoms if ingested. The chemicals in the hair dye can continue to cause damage for weeks after ingestion. Some dyes contain lead or mercury which can cause neurological problems even if low level exposure occurs over an extended period of time. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning - Methylene Chloride: Methylene Chloride is a chemical used mainly in paint removers, nail polish remover, fumigants and fire extinguishers. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning - Monosodium Methanarsenate: Monosodium Methanarsenate is a chemical used mainly as a herbicide or pesticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning - Phencyclidine: Phencyclidine is often used as an illegal recreational drug. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning - Resmethrin: Resmethrin is an insecticide used mainly inside the home. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning - Thallium Sulfate: Thallium Sulfate is a chemical used mainly in the manufacture of switches and closures in the semiconductor industry. It has historically also been used as a rodenticide. Ingestion and other exposures to the chemical can cause various symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chemical poisoning - Window cleaner: Window cleaner contains various chemicals (usually alcohols and ammonia) which can cause serious symptoms if sufficient quantities are ingested. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
  • Chiari Malformation: Protrusion of the brain down the spinal column.
  • Chlorpheniramine - Teratogenic Agent: There is evidence to indicate that exposure to Chlorpheniramine (an antihistamine medication) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Choking: Sensation of blockage or inability to breathe.
  • Cholesterol and lipids: Levels of blood or urine cholesterol or lipids as a symptom
  • Cholestyramine - Teratogenic Agent: There is evidence to indicate that exposure to Cholestyramine (cholesterol-lowering drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cholybar - Teratogenic Agent: There is evidence to indicate that exposure to Cholybar (cholesterol-lowering drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Choroid Plexus neoplasms: A rare type of brain tumor that originates in the choroids plexus. The choroids plexus is located inside a space in the brain called the ventricles and produces cerebrospinal fluid. Symptoms are determined by the size, type and exact location of the tumor.
  • Chromosome 1(q12q22) duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q12q22) of chromosome 1 which results in various abnormalities.
  • Chromosome 1, 1p36 deletion syndrome: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The symptoms are variable depending on the exact location of chromosomal deletion.
  • Chromosome 12, trisomy 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Chromosome 12q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy.
  • Chromosome 13 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q-mosaicism: A very rare chromosomal disorder where a copy of the long arm of chromosome 13 in some of the body's cells. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Chromosome 14 deletion: A rare genetic disorder where deletion genetic material from chromosome 14 causes various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material that is deleted.
  • Chromosome 14 uniparental disomy syndrome: A rare chromosomal disorder where two homologues are obtained from one parent.
  • Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 15q, trisomy: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 16q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 17 deletion: A rare genetic disorder where deletion genetic material from chromosome 17 causes various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material that is deleted.
  • Chromosome 17 trisomy: A rare genetic disorder where duplication of genetic material from chromosome 17 causes various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material that is duplicated.
  • Chromosome 17p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 18 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 18 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 1q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 2, monosomy 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
  • Chromosome 2, trisomy 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 21 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
  • Chromosome 22, trisomy: A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage.
  • Chromosome 22q duplication syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is duplicated.
  • Chromosome 2q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 3, trisomy 3q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair growth.
  • Chromosome 4, Monosomy 4q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities.
  • Chromosome 5, Trisomy 5p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 5p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Chromosome 6, trisomy 6p: A very rare chromosomal disorder where a part of the short arm (p) of chromosome 6 is duplicated resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 6p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 6 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 7 ring syndrome: A rare chromosomal disorder where the ends of chromosome 7 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
  • Chromosome 7, trisomy 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 7q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 8, monosomy 8p: A rare chromosomal disorder involving deletion of genetic material from the short arm (p) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 8, monosomy 8q: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Chromosome 8p deletion syndrome: A rare chromosomal disorder involving deletion of the short arm (p) of chromosome 8 resulting in various abnormalities.
  • Chromosome 9, Trisomy 9p (Multiple Variants): A rare chromosomal disorder characterized by mental retardation, head and face malformations and various other abnormalities.
  • Chromosome 9, trisomy 9q: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9/mosaic: A rare chromosomal disorder where chromosome 9 is duplicated in some of the body's cells resulting in various abnormalities determined by the type and number of cells that contain the extra genetic material.
  • Chromosome 9p tetrasomy syndrome: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
  • Chromosome 9q duplication: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.
  • Chronic Bokhoror: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The chronic form tends not to have acute symptoms but present with symptoms similar to a milder, less progressive form of the later stages of the slowly progressive form.
  • Chronic Viliuisk Encephaliti: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The chronic form tends not to have acute symptoms but present with symptoms similar to a milder, less progressive form of the later stages of the slowly progressive form.
  • Chronic Viliuisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The chronic form tends not to have acute symptoms but present with symptoms similar to a milder, less progressive form of the later stages of the slowly progressive form.
  • Chronic Vilyisk Encephalomyelitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The chronic form tends not to have acute symptoms but present with symptoms similar to a milder, less progressive form of the later stages of the slowly progressive form.
  • Chronic Vilyuisk Encephalitis: A brain disease caused by an unknown pathogen which is probably from the Picornavirus family of viruses. Mode of transmission is uncertain but genetic susceptibility may be involved. The incubation period appears to be an average of 15 years. The disease can be classified according to rate of progression: acute or subacute, slowly progressive and chronic. The chronic form tends not to have acute symptoms but present with symptoms similar to a milder, less progressive form of the later stages of the slowly progressive form.
  • Chronic vitamin A toxicity: Chronic excessive ingestion of vitamin A can cause symptoms.
  • Chuifong tokuwan-induced lead poisoning: Chuifong tokuwan is a folk remedy used mainly by Asian people to arthritis and other pain. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Chédiak-Higashi syndrome: An inherited immune system disorder characterized by reduced pigmentation, recurrent infection and neurological disorders.
  • Citrullinemia: Citrullinemia is an inherited urea cycle disorder which causes toxic substances including ammonia to build up in the blood. There are two main subtypes of Citrullinemia (I and II) which are caused by different genetic abnormalities and result in different symptoms. Milder forms may present in childhood and rare late-onset forms (adult-onset) may not cause symptoms until adulthood.
  • Citrullinemia I: A very rare urea cycle disorder where a lack of the enzyme argininosuccinate synthetase prevents ammonia being turned into urea which can then be excreted in the urine. The build up of ammonia in the body can cause harmful effects. The neonatal form of citrullinemia type I is generally more serious than the later onset form which may sometimes be mild enough to produce no symptoms.
  • Citrullinemia II: A very rare urea cycle disorder involving a deficiency of the transport compound called Citrin. Citrin transports aspartate to where the enzyme argininosuccinic acid synthase can combine it with citrulline to make argininosuccinic acid. The deficiency prevents ammonia being turned into urea which can then be excreted in the urine. The build up of ammonia in the body can cause harmful effects.
  • Cleft upper lip, median - cutaneous polyps: A rare birth disorder characterized mainly by a cleft in the upper lip, central nervous system tumors and skin polyps.
  • Clomiphene - Teratogenic Agent: There is evidence to indicate that exposure to Clomiphene during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cloverleaf skull micromelia thoracic dysplasia: A rare disorder characterized by a cloverleaf skull deformity, small limbs and bone abnormalities of the chest and spine. The disorder is lethal.
  • Clupeotoxism: A potentially fatal condition caused by eating fish such as herrings and anchovies from the Clupeidae family of fish. Severe poisoning can result in death within half an hour of ingestion. Outbreaks have been reported in the Caribbean Sea and the Indian-Pacific area.
  • Cocaine - Teratogenic Agent: There is evidence to indicate that exposure to Cocaine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cocaine addiction: An uncontrollable desire to use cocaine on a regular basis. Chronic cocaine use can lead to dependency in as little as two weeks. Frequent use leads to an increased tolerance to the drug so higher and higher doses are required to achieve the desired euphoric feeling.
  • Cocaine fetopathy: Cocaine use during pregnancy resulting in various birth defects and other abnormalities.
  • Cocaine overdose: Cocaine is an illegal and highly addictive recreational drug. Excessive doses of the drug can result in various symptoms and even death in severe cases.
  • Coccidioidomycosis: An infectious fungal disease caused by inhaling the spores of a particular bacteria. Also called desert fever, desert rheumatism, San Joaquin fever and valley fever.
  • Codeine - Teratogenic Agent: There is evidence to indicate that exposure to Codeine (an opiate drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Coenzyme Q 10 (CoQ10), deficiency: A rare inherited disorder characterized by the deficiency of Coenzyme Q 10. The range and severity of symptoms is variable.
  • Coenzyme Q cytochrome c reductase deficiency of: A rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as cardiomyopathy, fatal infant conditions and Leber's myopathy.
  • Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
  • Colestyramine - Teratogenic Agent: There is evidence to indicate that exposure to Colestyramine (cholesterol-lowering drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Coloboma chorioretinal cerebellar vermis aplasia: A very rare syndrome characterized by an eye anomaly (gap in eye structures such as choroids and retina) and abnormal development of the midline structure of the brain (cerebellar vermis aplasia).
  • Colorado tick encephalitis: A viral disease transmitted through the bite of ticks (Rocky Mountain wood tick and American dog tick) who are infected with the virus. Because the virus infects blood cells including erythrocytes, transmission can also occur through transfusion with infected blood but this is uncommon. Infection is most common in Canada and parts of western US. The incubation period usually lasts between 3 and 6 days but can be as long as a few weeks. The virus tends to cause to periods of fever each lasting for a few days.
  • Coma: Loss of consciousness for a long period
  • Common Variable Immunodeficiency: An immunodeficiency disorder involving low blood gamma globulin levels which results in an increased susceptibility to infections. The condition may be inherited or can be caused by certain drugs (levamisole, hydantoin and carbamazepine).
  • Complement component deficiency: Complement components are a part of the immune defense system involved in destroying and removing invading pathogens such as bacteria. A deficiency of the complement components can affect the ability of the body's immune system to function properly. The disorder which can be partial or complete and may be inherited or acquired. The severity of the symptoms is determined by which complement component (there are at least 30 of them) is deficient and whether the deficiency is partial or complete.
  • Complement receptor deficiency: Complement receptors are a part of the immune defense system and they initiate the process of destroying and removing invading pathogens. A deficiency of complement receptors thus affects the immune system. It may be inherited or be associated with autoimmune disorders such as systemic lupus erythematosus diabetic nephropathy patients on hemodialysis.
  • Complete Trisomy 18 syndrome: Complete Trisomy 18 syndrome is the most severe form of Edwards syndrome and involves an extra copy of chromosome 18 in all of the body cells. This severe form causes mental retardation and numerous physical defects that often cause death before birth or during infancy.
  • Complex 1 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (NADH CoQ) disrupts cellular processes and causes various organic acid disorders. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. Presentation may range from infantile death to various disorders such as Leigh's disease, Parkinson's disease and cardiomyopathy.
  • Complex 2 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (succinate CoQ reductase) disrupts cellular processes. The deficiency may result variable symptoms and condition including conditions such as Leigh's syndrome, myopathy and Kearns-Sayre syndrome.
  • Cone shell poisoning: A number of species of cone shells are capable of envenomating humans. The toxin is a neurotoxin and thus primarily affects the nervous system. Cone shells are found mainly in shallow waters of the Indian and Pacific oceans. The toxicity varies amongst species with some delivering a benign stink whereas others are capable of causing death. The cone snails a proboscis on the end of which is a poison-filled barb.
  • Congenital Disorders of Glycosylation Type Ia: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Congenital Toxoplasmosis: Fetal infection with toxoplasmosis.
  • Congenital aneurysms of the great vessels: A bulge in one of the main blood vessels in the body - pulmonary artery, pulmonary veins, vena cava and aorta. The condition is generally asymptomatic unless the aneurysm becomes very large or bursts which can result in rapid death depending on the location of the aneurysm.
  • Congenital cystic eye, multiple ocular and intracranial anomalies: A rare birth syndrome characterized by various eye and brain abnormalities, The eye abnormality is a developmental disorder where a large cyst forms instead of one eye. The size of the cyst is variable.
  • Congenital disorder of glycosylation type 1/IIX: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type I/IIX refers to cases where the specific abnormality cannot be determined.
  • Congenital disorder of glycosylation type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • Congenital disorder of glycosylation type 1L: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Il is caused by a defect on chromosome 11q23 and involves a defect in the ALG9 gene.
  • Congenital disorder of glycosylation type 2D: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 2d is caused by a defect on chromosome 9p13 and involves a defect in the gene for beta-1,4-galactosyltransferase.
  • Congenital disorder of glycosylation type IIH: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type IIh is caused by a defect on chromosome 16q22.1 and involves a defect on the COG8 gene.
  • Congenital herpes simplex: An infant born with a herpes simplex infection transmitted through the mother. The infection may be localized or involve various internal organs and even the central nervous system in which case death can occur.
  • Congenital nonhemolytic jaundice: A rare disorder where the liver is unable to remove bilirubin from the body which results in jaundice. Chronically high bilirubin levels can lead to neurological toxicity which manifests as progressive neurological symptoms.
  • Conn's adenoma: An uncommon (but possible highly underdiagnosed) condition characterized by the excessive production of a hormone called aldosterone by the adrenal gland. The condition may result from the presence of an adrenal adenoma. The severity of the condition is variable with some patients simply suffering high blood pressure and no other symptoms. Due to the high degree of variation in presenting symptoms, the condition may be frequently underdiagnosed or misdiagnosed.
  • Conn's syndrome: An adrenal gland disorder where excess aldosterone hormone is produced resulting in symptoms such as headache, fatigue, nocturia and increased urine production. Also called primary hyperaldosteronism.
  • Conn-Louis Carcinoma: An uncommon (but possible highly underdiagnosed) condition characterized by the excessive production of a hormone called aldosterone by the adrenal gland. The condition results from the presence of an adrenal carcinoma. The severity of the condition is variable with some patients simply suffering high blood pressure and no other symptoms. Due to the high degree of variation in presenting symptoms, the condition may be frequently underdiagnosed or misdiagnosed.
  • Conor's disease: An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and the incubation period is usually between 6 and 10 days.
  • Cordyceps-induced lead poisoning: Cordyceps is a folk remedy by Chinese people to treat high blood pressure, bleeding problems and diabetes. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Corpus callosum agenesis - blepharophimosis - Robin sequence: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
  • Corpus callosum dysgenesis X-linked recessive: Partial or complete lack of development of the structure that divides two sides of the brain (corpus callosum). As the condition is X-linked, it only occurs in males.
  • Corpus callosum, agenesis of, blepharophimosis Robin type: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
  • Cortical hyperostosis-syndactyly: A rare genetic disorder characterized by webbed fingers and thickening and overgrowth of bones.
  • Corticotropin - Teratogenic Agent: There is evidence to indicate that exposure to Corticotropin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Crack addiction: An uncontrollable desire to use crack on a regular basis. Chronic crack use can lead to dependency in as little as two weeks. Crack is a form of cocaine - powdered cocaine is heated with ammonia or sodium bicarbonate to make rocks of crack. Frequent use leads to an increased tolerance to the drug so higher and higher doses are required to achieve the desired euphoric feeling.
  • Craniodiaphyseal dysplasia: A very rare bone disorder where excess calcium is deposited mainly in the skull bones which can result in compression of various nerves in the skull and even the brain.
  • Craniofacial conodysplasia: A rare disorder characterized by neurological symptoms and abnormally-shaped bones in the hands and feet. The neurological symptoms are caused by a buildup of fluid inside the skull as well as compression of the spinal cord at the neck-skull junction.
  • Craniosynostosis: A defect involving the fusion of one or more bones in the skull before it has finished growing which affects the head size and shape and can affect the growth of the brain. The defect is often associated with other conditions. Symptoms are determined by which skull bones are prematurely fused.
  • Craniosynostosis - alopecia - brain defect: A very rare syndrome characterized mainly by a malformed skull, lack of hair and a brain defect.
  • Craniosynostosis Fontaine type: A very rare disorder characterized primarily by the premature fusion of skull bones, hand, foot and stomach anomalies and a brain malformation (bilateral periventricular nodular heterotopia).
  • Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus: A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the brain and interferes with the movement of fluid through the brain resulting in an accumulation of fluid.
  • Craniotelencephalic dysplasia: A very rare syndrome characterized primarily by premature fusion of various skull bones and abnormal brain development.
  • Crigler-Najjar syndrome, type 1: A rare congenital condition involving a total absence of the liver enzyme called glucoronyl transferase which is needed to change bilirubin into a form that can be removed from the body. The bilirubin builds up in the body and causes damage and severe symptoms.
  • Crome syndrome: A very rare disorder characterized by various abnormalities including mental retardation, epilepsy and eye and kidney problems.
  • Cryptococcosis: A fungal infection caused by Cryptococcus neoformans which primarily affects the central nervous system and the lungs. People with weakened immune systems such as AIDS sufferers are generally more susceptible to this type of infection.
  • Crystal meth addiction: An uncontrollable desire to use crystal meth on a regular basis. Crystal meth is a powerful stimulant used illegally for its effects. It is highly addictive and known by street names such as ice, speed, glass, crank and chalk. Frequent use leads to an increased tolerance to the drug so higher and higher doses are required to achieve the desired euphoric feeling.
  • Currarino triad: A rare birth malformation consisting of abnormalities in the anal, sacral and presacral areas.
  • Cutler Syndrome: A rare disorder characterized by multisystem disorders including muscle wasting, ataxia, epilepsy, anemia and kidney disease. The kidney disease is most likely present at birth.
  • Cutler-Bass-Romshe syndrome: A very rare syndrome characterized by kidney, neurological and thyroid problems.
  • Cyclophosphamide - Teratogenic Agent: There is evidence to indicate that exposure to Cyclophosphamide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Cyprus facial neuromusculoskeletal syndrome: A rare inherited syndrome characterized by variable neurological, muscular and skeletal abnormalities as well as a characteristic face.
  • Cysticercosis: An infectious disease caused by the pork tapeworm Taenia solium. If the larvae are ingested then a mild or asymptomatic tapeworm infection occurs. However, ingested eggs pass into the bloodstream where they can then enter various tissues and form the cysts that characterize cysticercosis.
  • Cytomegalovirus: A easily transmissible viral infection that is common but generally causes no symptoms except in infants and people with weakened immune systems.
  • Czeizel syndrome: A rare lethal syndrome characterized by cleft palate, uterus abnormalities and omphalocele (protrusion of abdominal organs such as intestine through the navel).
  • Czeizel-Losonci syndrome: A very rare syndrome characterized by missing fingers, ureter abnormalities, webvbed fingers and toes and abnormal spinal development.
  • D-minus hemolytic uremic syndrome (D-HUS) - pregnancy related: A rare condition characterized by hemolytic anemia, thrombocytopenia and kidney failure. This type is not associated with diarrhea and is triggered by pregnancy.
  • Dandy Walker syndrome recessive form: A rare recessively inherited brain malformation where a cyst develops in the brain which can interfere with the drainage of cerebrospinal fluid and lead to hydrocephalus. The severity of the condition is variable and symptoms tend to only occur if the fluid builds up inside the skull.
  • Dandy-Walker - facial hemangioma: A very rare syndrome characterized mainly by a brain malformation (Dandy-Walker) and a hemangioma on the face (mass of dilated blood vessels).
  • Dandy-Walker Syndrome: A congenital brain malformation characterized by increased fluid in the brain.
  • Dandy-Walker malformation postaxial polydactyly: A very rare syndrome where the Dandy-Walker malformation is associated with extra fingers and toes.
  • De Sanctis-Cacchione syndrome: A rare genetic ectodermal disorder characterized by sunlight sensitivity, skin atrophy and pigmentation and skin tumors as well asneurologic involvement.
  • Deafness: Partial or complete hearing loss
  • Deafness - hypospadias - metacarpal and metatarsal synostosis: A very rare syndrome characterized mainly by deafness, penis abnormalities and bone anomalies in the foot and hands.
  • Decompression sickness: Condition from overly rapid decompression, especially when diving.
  • Defective apolipoprotein B-100: A rare inherited condition where defective apolipoprotein B-100 impairs the metabolism of cholesterol and results in high blood cholesterol which in turn increases the risk of cardiovascular disease.
  • Del(1) (23-q25): A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing.
  • Del(1) (pter-p36.2): A very rare chromosomal disorder where the end portion of the short arm of chromosome one is missing. The type and severity of symptoms is variable.
  • Del(1) (q24-q25.3): A very rare chromosomal disorder where a portion of the long arm (q24-q25.3) of chromosome one is missing. The type and severity of symptoms is variable.
  • Del(1) (q41-qter): A very rare chromosomal disorder where a portion of the long arm (q41-qter) of chromosome one is missing. The type and severity of symptoms is variable.
  • Del(1q32): A very rare chromosomal disorder where a portion of the long arm (1q32) of chromosome one is missing.
  • Deletion 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Deletion 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
  • Deletion 8p: A rare chromosomal disorder involving deletion of genetic material from the short arm (p) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Deletion 8q: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 8 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
  • Delleman-Oorthuys syndrome: A rare birth disorder characterized by eye cavity cysts, brain anomalies, facial skin tags and various other skin lesions.
  • Dementia, familial Danish: A rare inherited form of dementia caused by the deposit of abnormal substances in the brain, spinal cord and retina and the degeneration of brain tissue. Deafness and cataracts usually started in the 20's with severe deafness occurring by the age of 45. Movement problems usually started after the age of 40 with death occurring in the 5th or 6th decade.
  • Demyelinating disorder: Any condition that is characterised by the destruction of the myelin sheaths of the nerves
  • Dentatorubral Pallidoluysian Atrophy: A condition caused by an abnormality of the DNA sequence on chromosome 12
  • Deshi Dewa-induced lead poisoning: Deshi Dewa is a folk remedy by Indian people as a fertility medicine. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Dextroamphetamine - Teratogenic Agent: There is evidence to indicate that exposure to Dextroamphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Diabetes insipidus, diabetes mellitus, optic atrophy: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
  • Diabetes-like symptoms: Symptoms similar to those of diabetes
  • Diflucan - Teratogenic Agent: There is evidence to indicate that exposure to Diflucan (an antifungal drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Digitorenocerebral syndrome: A very rare syndrome characterized by numerous abnormalities involving the brain, kidneys, fingers, toes, nails and face as well as mental retardation and vision impairment.
  • Dihydropyrimidine dehydrogenase deficiency: A metabolic error where a deficiency of an enzyme called dihydropyrimidine dehydrogenase prevents the normal metabolism of certain proteins. High levels of certain proteins are excreted in the urine. The enzyme is also needed the breakdown a chemotherapy drug called 5-flurouracil and its absence can result in a severe toxicity reaction.
  • Dimedrol - Teratogenic Agent: There is evidence to indicate that exposure to Dimedrol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Dinno-Shearer-Weisskopf syndrome: A very rare syndrome characterized mainly by long limbs, tall stature, large head, ataxia and facial anomalies.
  • Diphenhydramine - Teratogenic Agent: There is evidence to indicate that exposure to Diphenhydramine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Dridol - Teratogenic Agent: There is evidence to indicate that exposure to Dridol (an antinausea and antipsychotic drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Droperidol - Teratogenic Agent: There is evidence to indicate that exposure to Droperidol (an antinausea and antipsychotic drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Dropletan - Teratogenic Agent: There is evidence to indicate that exposure to Dropletan (an antinausea and antipsychotic drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Drug-resistant Streptococcus Pneumoniae Disease: Streptococcal respiratory infection resistant to antibiotics
  • Dup (1) (q23-qter) and del (3)(pter-p25): A very rare chromosomal disorder where a portion of the long arm (q23-qter) of chromosome one and the short arm of chromosome 3 (pter- p25) is duplicated. In the reported case, the infant died soon after birth.
  • Dup (1) (q32-qter) and del (7)(q32-qter): A very rare chromosomal disorder where a portion of the long arm (q32-qter) of chromosome one is duplicated and the long arm of chromosome 7 (q32) is deleted. There have only been a couple of reported cases and symptoms may vary somewhat between patients.
  • Dup(1) (q24-q31.2): A very rare chromosomal disorder where a portion of the long arm (q24-q31.2) of chromosome one is duplicated. In the reported case, death occurred within hours of birth.
  • Duplication 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Duplication 13: A rare and very severe chromosome disorder leading to mental retardation and physical defects. It is so severe that many babies die soon after birth. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • Duplication 18: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
  • Duplication 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Duplication 5p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 5 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
  • Duplication 6p: A very rare chromosomal disorder where a part of the short arm (p) of chromosome 6 is duplicated resulting in various abnormalities depending on the location and length of missing genetic material.
  • Duplication 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Dysbarism: A reaction caused by exposure to a sudden change in environmental pressure.
  • Dyslipidemia: Abnormal lipid levels in the blood which may manifest as high cholesterol, triglycerides or LDL and low HDL.
  • Dysmyelination: Defective formation of or destruction of the myelin sheath around nerves. The symptoms are determined by the location and extent of the abnormality.
  • Dystonia with cerebellar atrophy: A recessively inherited movement disorder (dystonia) which responds poorly to Levodopa treatment and involves wasting of part of the brain.
  • Ecstasy abuse: Use of the illicit drug called ecstasy
  • Ecstasy overdose: Ectsasy is an illegal and highly addictive recreational drug. Excessive doses of the drug can result in various symptoms and even death in severe cases.
  • Ectodermal dysplasia - mental retardation - central nervous system malformation: A rare syndrome characterized by severe mental retardation, hypothyroidism, abnormal brain development and hair, teeth and nail abnormalities.
  • Edinburgh malformation syndrome: A rare syndrome characterized mental and physical retardation, infant death and various other abnormalities.
  • Edward Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Duplication 18 syndrome is more severe than the more common Down syndrome. Duplication 18 syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
  • Edwards Syndrome: A rare inherited genetic disorder where a portion of chromosome 18 is duplicated. Most affected individuals die during the fetal stage and surviving infants have serious defects and tend to live for only a short while.
  • Edwardsiella tarda infection: A type of bacterial infection. The bacterium (Edwardsiella tarda) infects freshwater-dwelling animals and transmission occurs through consuming infected animals or contact with contaminated water. Symptoms are determined by the location of the infection. Healthy people are often able to fight of the infection but those with an underlying illness or poor immune systems may be more susceptible.
  • Ehlers-Danlos syndrome with periventricular heterotopia: The association of a brain malformation (periventricular nodular heterotopia) with a connective tissue disorder called Ehlers-Danlos syndrome.
  • Ehlers-Danlos syndrome, X-linked: A rare developmental brain abnormality. Type 1 is caused by a defect on chromosome Xq28.
  • Ehrlichiosis: Bacterial tick-borne disease
  • Eikenella corrodens infection: A type of anaerobic bacterial infection. The bacterium (Eikenella corrodens) is normally found in tooth plaque and can cause infection in various parts of the body. It tends to occur in patients with head and neck cancers or diabetics and drug users who lick their needles. Symptoms will depend on the location of the infection.
  • Enalapril - Teratogenic Agent: There is evidence to indicate that exposure to Enalapril (an ACE inhibitor) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Encephalitis: Infection of the brain (as a symptom)
  • Encephalocele anterior: Protrusion of a portion of the brain tissue through a skull defect in the anterior portion of the skull. The severity of symptoms depends on the exact location and size of the deformity.
  • Encephalocele frontal: Protrusion of a portion of the frontal brain tissue through a skull defect. The severity of symptoms depends on the exact location and size of the deformity.
  • Encephaloceles: Improper protrusions of parts of the meninges and brain.
  • Encephalopathy: Any degenerative condition which affects ones brain
  • Encephalopathy - intracranial calcification - growth hormone deficiency - microcephaly - retinal degeneration: A rare condition characterized mainly by brain disease, poor growth due to a deficiency of growth hormone, a small head and vision impairment.
  • Encephalopathy progressive - optic atrophy: A rare birth disorder characterized by progressive brain disease, facial anomalies and eye problems.
  • Endocarditis, infective: A rare condition where a bacterial infection attacks the inner lining of the heart muscle and valves which is called the endocardium.
  • Endodermal sinus tumor: A form of malignant germ cell tumor that occurs mainly in young children. They can occur in the testis, ovaries, uterus, abdomen, thorax, tailbone region, vagina, liver, retroperitoneum and pineal ventricle of the brain. Symptoms will vary depending on the exact location of the tumor.
  • Endomyocardial fibrosis: Heart disease characterized by progressive fibrosis of the lining of one or both lower heart cavities. This results in constriction of the heart cavity and may involve the heart valves and other structures.
  • Enterovirus antenatal infection: Fetal infection with enterovirus. The condition is extremely rare but infection around the time of birth often results in death or paralysis in survivors. The type and severity of symptoms is determined by the exact type of virus involved and at what stage of development the infection occurs.
  • Enteroviruses: Viruses affecting the digestive tract.
  • Ependymoma: A tumor that occurs in the central nervous system (brain and spinal cord). Symptoms vary according to the aggressiveness, size and exact location of the tumor.
  • Epiglotitis: Inflamation of the epiglottis in the throat
  • Epilepsy: Paroxysmal transient disturbances of brain function that may manifest as loss of consciousness, abnormal motor phenomena
  • Episodic ataxia, type 6: A rare genetic disorder characterized by episodes of incoordination and unsteadiness. Stress and exertion may trigger the episodes which tend to last for about half an hour. Type 6 is extremely rare and is caused by a defect on chromosome 5p13.
  • Ergotamine - Teratogenic Agent: There is evidence to indicate that exposure to Ergotamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Erythrokeratodermia with ataxia: A rare syndrome characterized by the association of a skin disorder with slowly progressive neurological symptoms.
  • Erythromycin - Teratogenic Agent: There is evidence to indicate that exposure to Erythromycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Escharonodulaire: An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and the incubation period is usually between 6 and 10 days.
  • Esophagus symptoms: Symptoms affecting the esophagus (digestive throat passage)
  • Essential thrombocytosis - same as essential thrombocythemia: A rare blood disorder where the blood contains too many platelets due to excessive megakaryocytes (platelet-producing cells). Platelets are essential for blood clotting but in essential thrombocythemia excessive platelets can cause the blood to form abnormal clots. If the platelets are defective as well then bleeding problems can occur. The severity of the condition is variable.
  • Ethisterone - Teratogenic Agent: There is evidence to indicate that exposure to Ethisterone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Ethosuximide - Teratogenic Agent: There is evidence to indicate that exposure to Ethosuximide (antiseizure medication) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Etretinate - Teratogenic Agent: There is evidence to indicate that exposure to Etretinate (a drug used to treat psoriasis) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Extradural hematoma: Bleeding in the skull outside the brain
  • Fabry's Disease: An inherited metabolic disorder where phospholipids are deposited mostly in the blood vessels as well as other tissues and organs. Symptoms include skin lesions, small red spots on the abdomen, thighs and scrotum, fever, peripheral edema, hypertension and renal failure. Also called angiokeratoma corporis diffusion, Anderson's syndrome, Anderson-Fabry disease, Morbus Anderson-Fabry, Ruiter-Pompen syndrome or Sweeley-Klionsky disease.
  • Facial palsy: paralysis of the facial nerve resulting in inability to control the facial muscles of the affected side
  • Factor VII deficiency: A rare inherited blood disorder caused by a deficiency of a blood protein called Factor VII and resulting in poor blood coagulation. The severity of the condition is variable.
  • Factor XIII Deficiency: A very rare inherited or acquired blood disorder caused by a deficiency of Factor XIII which is involved in stabilizing blood clot formation. The condition manifests as bleeding problems.
  • Factor XIII deficiency, congenital: A very rare inherited blood disorder caused by a deficiency of Factor XIII which is involved in stabilizing blood clot formation. The condition manifests as bleeding problems.
  • Factor XIII, A1 subunit Deficiency: A very rare inherited or acquired blood disorder caused by a deficiency of subunit A of Factor XIII which is involved in stabilizing blood clot formation. The condition manifests as bleeding problems.
  • Factor XIII, B subunit Deficiency: A very rare inherited or acquired blood disorder caused by a deficiency of subunit B of Factor XIII which is involved in stabilizing blood clot formation. The condition manifests as bleeding problems.
  • Fahr's Syndrome: A rare neurologic disorder where calcium is deposited in various parts of the brain resulting in progressive loss of motor and mental function.
  • Familial Apolipoprotein A-I and C-III Deficiency: Familial Apolipoprotein A-I and C-III Deficiency is a lipid metabolism disorder characterized by low HDL cholesterol and a lack of apolipoproteins A-I and C-III in the blood.
  • Familial Apolipoprotein A-I, C-III, A-IV Deficiency: Familial Apolipoprotein A-I, C-III and A-IV Deficiency is a lipid metabolism disorder characterized by low HDL cholesterol and a lack of apolipoproteins A-I and C-III in the blood.
  • Familial Hypercholesterolemia: A genetic abnormality which causes patients to have abnormally high cholesterol levels (low-density lipoproteins). The condition usually leads to early cardiovascular disease.
  • Familial Mediterranean fever: A rare inherited condition characterized by recurrent fever and inflammation. The inflammation usually involves the stomach, lungs or joints.
  • Familial atrial fibrillation: A rare inherited condition where abnormal electrical activity in the heart causes it to have a fast and irregular beat. The condition may go unnoticed or may cause stroke or sudden death in some cases.
  • Famotidine - Teratogenic Agent: There is evidence to indicate that exposure to Famotidine (used to treat and prevent ulcers) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Farouk-induced lead poisoning: Farouk is a folk remedy by Saudi Arabian people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Faye-Petersen-Ward-Carey syndrome: A very rare syndrome characterized by excess fluid in the skull, a blood disorder and bone and bone abnormalities.
  • Febrile Seizures: Fever-caused seizures in infants or children.
  • Fetal akinesia syndrome, X-linked: A rare syndrome where the fetus is unable to move or has reduced mobility due to brain defects.
  • Fetal alcohol syndrome: A condition which occurs in a new born fetus and is caused by the mother consuming excess alcohol during her pregnancy
  • Fetal brain disruption sequence: A very rare syndrome characterized by skull and brain abnormalities.
  • Fetal indomethacin syndrome: Fetal exposure to indomethacin which is a nonsteroidal anti-inflammatory drug. The drug can pass through the placenta from the mother to the baby and cause various problems depending on what stage of development the fetus is at.
  • Fetal parainfluenza virus type 3: Maternal infection with parainfluenza virus type 3 can cause a serious infection in the fetus and result in hydrocephalus. The risk is greatest during the first half of the pregnancy.
  • Fetal-onset olivopontocerebellar hypoplasia: A rare inherited condition where the brainstem and part of the brain (cerebellum) is abnormally small.
  • Fibromatosis multiple non ossifying: A very rare syndrome characterized mainly by bone abnormalities which causes the bones to fracture easily.
  • Fibromuscular dysplasia of arteries: A rare disease where the blood vessel walls thicken and harden which reduces blood flow through the arteries and into various organs. The main arteries that may be affected are those in the kidney's and abdomen as well as the carotid artery which caries blood from the heart to the neck.
  • Flavivirus Infections: Infection with a virus from the Flaviviridae family of viruses. Infections by these pathogens include Dengue fever, Rocio encephalitis, West Nile virus and Japanese encephalitis. Transmission usually occurs through the bite of a mosquito.
  • Fluconazole - Teratogenic Agent: There is evidence to indicate that exposure to Fluconazole (an antifungal drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Flucytosine - Teratogenic Agent: There is evidence to indicate that exposure to Flucytosine (an antifungal drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Fluorouracil - Teratogenic Agent: There is evidence to indicate that exposure to Fluorouracil (a chemotherapy drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Fochs-LADD: A rare familial disorder characterized by brain disease, calcification in the brain, bleeding in the brain and dementia.
  • Franek-Bocker-Kahlen syndrome: A rare syndrome characterized mainly by a small head, brain defect, spasticity and high sodium level.
  • Fried syndrome: A rare syndrome characterized mainly by mental retardation, buildup of fluid inside the skull and an unusual facial appearance. The disorder is inherted in a X-linked manner.
  • Fumaric aciduria: A rare inborn metabolic error where a deficiency of the enzyme fumarase due to a genetic defect impairs the body's ability to break down fumarate into malate which results in increased fumaric acid levels in the urine.
  • Fungal meningitis: Fungal meningitis is an infection that causes swelling and irritation of the tissue around the brain and spinal cord. It usually strikes people whose weakened immune systems can't fight off infection. The disease is not common. but it can be very serious.
  • Galloway syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities.
  • Game-Friedman-Paradice syndrome: A rare condition characterized by retarded growth, hydrocephaly, underdeveloped lungs and various other anomalies. The condition was observed in four offspring from one family.
  • Ganglioglioma: A type of tumor that develops in the central nervous system. The tumor originates from glial and nerve cells. The tumor may grow rapidly and symptom will vary depending on the exact location and size of the tumor.
  • Gangliosidosis, generalized GM1 type 2: A rare biochemical disorder involving a deficiency of an enzyme (beta-galactosidase 1) which results in the accumulation of harmful chemicals (GM1 gangliosides) in the central nervous system and other body tissues. Type III involves a lesser degree of accumulation than type II or I. Death can occur early in life in severe cases but milder cases can survive into late childhood.
  • Gaucher Disease: A rare inherited biochemical disorder characterized by the deficiency of the enzyme called glucocerebrosidase and accumulation of glycosylceramide (glucocerebroside). There are three forms of this disease: type 1, 2 and 3.
  • Ghasard-induced lead poisoning: Ghasard is a lead-containing tetraoxide salt used mainly by Asian and Indian people as a tonic (usually for indigestion). This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Glioma: A rare type of tumor that occurs from glial cells that make up the central nervous system. These tumors usually occur in the brain but can also occur in the spinal cord and other nerves such as the optic nerve. Symptoms depend on the size and location of the tumor.
  • Gliomatosis cerebri: A rare, aggressive type of malignant brain tumor. Cancerous glial cells infiltrate various parts of the brain and can result in a variety of symptoms.
  • Gliosarcoma: A type of brain tumor that originates from glial cells. The tumor may grow rapidly and symptom will vary depending on the exact location and size of the tumor.
  • Glutamate-cysteine ligase deficiency: A very rare condition characterized by an enzyme deficiency which leads primarily to hemolytic anemia which is usually quite mild. Care must be taken to avoid medications which can lead to a hemolytic crisis.
  • Glutaric aciduria 2: A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. The severity of symptoms depends on the level of deficiency. The infant onset form is the most severe and often results in death. Severe cases usually develop during childhood or infancy and usually involve metabolic acidosis and its associated symptoms. Milder cases may simply present with muscle weakness initially that develops in adulthood. Some cases may involve additional symptoms such as heart, liver and kidney problems, facial anomalies and genital abnormalities.
  • Glutathione synthetase deficiency, severe: An inborn error of metabolism where insufficient glutathione is produced. Glutathione is an antioxidant which helps destroy unstable molecules that can cause damage to cells and helps develop certain cell components. The condition is due to insufficient glutathione synthetase enzyme. The condition may range from mild, resulting in excessive destruction of red blood cells, to severe which includes neurological symptoms.
  • Glycine synthase deficiency: A rare genetic disorder characterized by high blood glycine levels which is toxic to the body. The severity of the condition varies according to the degree of deficiency and age of onset. The classical neonatal form is generally quite severe, the atypical mild form which generally includes symptoms such as aggressiveness, behavioral problems and speech problems. The transient neonatal form involves high blood glycine levels at birth which then returns to normal within a couple of months - there was no neurological or developmental impairment.
  • Glycine synthase deficiency, type 1: A rare genetic disorder characterized by high blood glycine levels. It is caused by a defect in the P protein (pyridoxal phosphate-dependent glycine decarboxylase) in the energy creating center of cells (mitochondria).
  • Glycine synthase deficiency, type 2: A rare genetic disorder characterized by high blood glycine levels. It is caused by a defect in the T protein (tetrahydrofolate-requiring enzyme) in the energy creating center of cells (mitochondria).
  • Gnathostoma Infection: Infection with a type of round worm (Gnathostoma spinigerum and Gnathostoma hispidum). Infection typically occurs through eating undercooked fish or poultry containing the roundworm larvae or by drinking contaminated water. The symptoms are determined by which tissues the worms migrate through. The worms tend to migrate mainly through the skin.
  • Gnathostoma hispidum infection: A tapeworm infection with a tapeworm species called Gnathostoma hispidum. The infection is called gnathostomiasis and usually results from eating undercooked contaminated fish or poultry or drinking contaminated water. The nature and severity of symptoms vary depending on which part of the body the tapeworms migrate through (usually the skin).
  • Gnathostoma spinigerum infection: A tapeworm infection with a tapeworm species called Gnathostoma spinigerum. The infection is called gnathostomiasis and usually results from eating undercooked contaminated fish or poultry or drinking contaminated water. The nature and severity of symptoms vary depending on which part of the body the tapeworms migrate through (usually the skin).
  • Goossens-Devriendt syndrome: A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers.
  • Granulomatous Angiitis of the Central Nervous System: Inflammation of blood vessels in the central nervous system (brain and spinal cord). The condition tends to recur.
  • Greta-induced lead poisoning: Greta is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Griscelli disease: A rare genetic disorder characterized mainly by albinism (lack of pigmentation). There are three different subtypes of the disorder (I, II and III) each with varying additional features such as immunodeficiency and neurological symptoms. Type 1 involves partial albinism and neurological symptoms, type II involves partial albinism, immunodeficiency and sometimes neurological symptoms and type III involves albinism, only.
  • Griscelli syndrome type II: A rare genetic condition characterized by a partial lack of pigmentation in the eye, skin and hair, clumps of pigmentation in hair shafts, immunodeficiency and neurological symptoms.
  • Griscelli syndrome type III: A rare genetic condition characterized by a partial lack of pigmentation in the eye, skin and hair, clumps of pigmentation in hair shafts and immunodeficiency.
  • Group A Streptococcal Infections: "Strep" bacteria responsible for strep throat, impetigo and some other strep conditions.
  • Group B Streptococcal Infections: "Strep" bacteria that may affect newborns and the immune-compromised; compare strep A.
  • HARD syndrome: A rare genetic disorder characterized by a smooth brain surface and eye, genitourinary and other abnormalities.
  • HARD syndrome (Hydrocephalus - agyria - retinal dysplasia): A rare genetic disorder characterized by a smooth brain surface and eye, genitourinary and other abnormalities.
  • HELLP syndrome: A rare potentially fatal condition that occurs in pregnant women and is frequently associated with pre-eclampsia.
  • HERNS syndrome: A rare inherited syndrome characterized by blood vessel disease which causes eye and kidney disease and strokes. Neurological manifestations tend to occur around the 2nd and 3rd decade of life due to the blood vessels in the brain being affected.
  • HHV-6 encephalitis: A rare condition that usually occurs in immunocompromised people such as those undergoing transplants or HIV patients. The condition causes neurological symptoms.
  • HIV/AIDS: HIV is a sexually transmitted virus and AIDS is the progressive immune failure that HIV causes.
  • HMG CoA synthetase deficiency: An inherited metabolic defect due to the deficiency of an enzyme (HMG CoA synthetase) needed to form ketone bodies. Symptoms are often preceded by periods of fasting or illness.
  • Hageman factor deficiency: A congenital blood disorder where there is a deficiency of the Hageman factor (blood factor XII) which is required for blood clotting. Other blood clotting factors compensate for the missing factor so most patients are generally asymptomatic.
  • Hai Ge Fen-induced lead poisoning: Hai Ge Fen is clamshell powder used mainly by Chinese people to make traditional Chinese herbal medicines. This product has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Hajdu-Cheney Syndrome: A rare genetic disorder characterized by early tooth loss, relaxed joints, small stature and bone abnormalities.
  • Hand, Foot, & Mouth Disease: Common contagious viral infant or child condition
  • Hantavirosis: Infection by hantavirus which is a virus from the family Bunyaviridae. Infection generally causes severe febrile illness which can involve bleeding, shock and even death in some cases. The disease is transmitted by infected rodents.
  • Head injury: Any injury that occurs to the head
  • Head symptoms: Symptoms affecting the head or brain
  • Headache: Pain affecting the head or brain area.
  • Hearing loss: The loss of part or all of ones ability to hear
  • Heart symptoms: Symptoms affecting the heart
  • Heat stroke: it is a life threatening condition. It is hyperthermia in an advanced state
  • Hemangioblastoma: A benign tumor that tends to occur in the central nervous system such as the brain and spinal cord. The tumor arises from the stem cells that develop into blood vessels or blood cells (hemangioblasts). Symptoms vary depending on the exact location and size of the tumor.
  • Hemiplegic migraine, familial type 1: A rare inherited form of migraine that characteristically causes temporary paralysis on one side of the body and involves the presence of an aura. A migraine episode may be triggered by minimal trauma to the head. The severity of the disorder is variable with some patients experiencing paralysis on one side of the body or coma for weeks.
  • Hemophagocytic reticulosis: The abnormal proliferation of reticulum cell (histiocytes) which infiltrate various organs and. Macrophages destroy blood cells causing blood abnormalities. Meningoencephalitis frequently occurs when the histiocytes infiltrate the mininges and cerebral tissue. Symptoms start at birth or soon after and become progressively worse without treatment. Medication can control the condition but a hematopoietic stem cell transplant is needed to achieve remission.
  • Hemophilia: Blood disease usually genetic causing failure to clot.
  • Hemophilus influenzae B: Bacterial respiratory infection with dangerous complications.
  • Hemorrhagic shock and encephalopathy syndrome: A very rare severe condition characterized by sudden severe shock, brain disease and liver and kidney dysfunction which occurs in infants. The cause is unknown.
  • Hemorrhagic thrombocythemia: A rare blood disorder characterized by increased number of platelets in the blood which often results in an enlarged spleen, bleeding and blood vessel blockages.
  • Henna-induced lead poisoning: Henna is used mainly by Middle Eastern people as a hair and skin dye. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Heparin-induced thrombocytopenia: A blood disorder triggered by the use of the drug called heparin which is an anticoagulant. The severity of the condition is variable.
  • Hepatic encephalopathy: Caused by marked liver disease that results in disturbances of consciousness
  • Hepatic encephalopathy syndrome: A rare syndrome involving the association of advanced liver disease and neurological problems.
  • Hepatoma: Hepatocellular carcinoma (HCC) is a primary malignancy of the liver.
  • Herbal Agent adverse reaction - Ginkgo biloba: Ginkgo biloba can be used as a herbal agent to treat conditions such as tinnitus, brain trauma, vertigo, blood vessel diseases and any other problems which benefit from the blood vessel dilating action of the herbal agent. Ginkgo biloba can cause adverse reactions in some people.
  • Herbal Agent adverse reaction - Margosa oil: Margosa oil can be used as a herbal agent to treat parasitic infestations. The herbal agent contains various chemicals which can cause an adverse reaction in some people.
  • Hereditary ataxia: Ataxia may depend on hereditary disorders consisting of degeneration of the cerebellum and/or of the spine
  • Hereditary carnitine deficiency: An inherited deficiency of carnitine resulting primarily in muscle problems. Severe symptoms can be triggered by periods of illness or fasting.
  • Hereditary hemorrhagic telangiectasia: A rare genetic disorder characterized by epistaxes and multiple telangiectases.
  • Herpes, Neonatal: Neonatal herpes is the infection of a newborn with the herpes virus within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions.
  • Herpes, Neonatal - Central Nervous System Infection: Central nervous system herpes infection in neonates is a herpes infection of the central nervous system (brain, spinal cord) that develops in infants within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions. Central nervous system infection will occur in nearly three quarters of infants with a herpes infection.
  • Herpes, Neonatal - Disseminated: Disseminated neonatal herpes is a widespread infection of a newborn with the herpes virus within the first six weeks of life. The virus may be transmitted from the mother to the baby while it is still in the uterus or during delivery. The risk of transmitting the virus is highest if genital herpes is contracted during the late stages of the pregnancy. A mother with long standing or recurring herpes infection usually has sufficient antibodies to the virus to prevent the infant becoming infected. Neonatal herpes can also be contracted when an infant comes into contact with an infected person e.g. being kissed by and adult with cold sores. A cesarean birth may be advised for mothers who have active genital lesions. Brain infection will occur in over half of infants with the disseminated form.
  • Heterozygous Familial Hypercholesterolemia: Heterozygous Familial Hypercholesterolemia is an inherited condition involving abnormal lipid metabolism. Cholesterol levels tend to be with coronary artery disease usually developing before the age of 50. The heterozygous form of the condition is not as severe as the homozygous form of the disease.
  • High blood pressure: Excessive blood pressure.
  • Holoacardius amorphus: A very rare disorder where a twin in the womb doesn't have it's own heart. This second twin is often a very malformed, shapeless mass that acts as a parasite by utilizing the placenta of the normal twin.
  • Holoprosencephaly: A rare disorder where abnormalities of the fetal forebrain development lead to various birth defects.
  • Holoprosencephaly, recurrent infections, and monocytosis: A rare syndrome characterized by recurring infections and a brain anomaly. Death usually occurs during the first years of life due to sepsis.
  • Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
  • Homocystinuria due to cystathionine beta-synthase deficiency: A rare genetic biochemical disorder where a deficiency of cystathionine beta-synthase results in high levels of methionine and homocysteine in the blood and reduced levels of cyteine in the blood. There are two subtypes of the disorder with varying manifestations. One type responds to Vitmain B6 supplementation and the other doesn't. Those who do respond to Vitamin B6 tend to have milder manifestations.
  • Homocystinuria due to defect in methylation (cbl g): An inherited organic acid disorder where an enzyme deficiency (methionine synthase) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects. It is a form of vitamin B12 deficiency.
  • Homocystinuria due to defect in methylation cbl e: An inherited organic acid disorder where an enzyme deficiency (methionine synthase reductase) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects. It is a form of vitamin B12 deficiency.
  • Homozygous Familial Hypercholesterolemia: Homozygous Familial Hypercholesterolemia is a severe inherited condition involving abnormal lipid metabolism. Cholesterol levels tend to be very high with problems occurring early in life. Death from a heart attack can occur within the first few years of life in severe cases.
  • Hydranencephaly: A very rare condition where fluid replaces a portion of the brain.
  • Hydrocephalus: A condition which is characterized by marked dilatation of the cerebral ventricles
  • Hydrocephalus - Skeletal Anomalies - Mental Disturbance: A very rare condition reported in only a few families and characterized by a buildup of fluid inside the brain, skeletal anomalies and mental disturbance.
  • Hydrocephalus - costovertebral dysplasia - Sprengel anomaly: A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly).
  • Hydrocephalus - craniosynostosis - bifid nose: A very rare disorder characterized mainly by a buildup of fluid inside the skull, premature fusion of skull bones and a bifid nose.
  • Hydrocephalus - growth delay - skeletal anomalies: A very rare syndrome characterized mainly by retarded growth, buildup of fluid (cerebrospinal fluid) inside the skull and various skeletal anomalies.
  • Hydrocephalus - growth retardation - skeletal anomalies: A very rare syndrome characterized mainly by retarded growth, buildup of fluid (cerebrospinal fluid) inside the skull and various skeletal anomalies.
  • Hydrocephalus autosomal recessive: A rare, recessively inherited disorder where there is an abnormal buildup of fluid (cerebrospinal fluid) inside the skull.
  • Hydrocephalus due to congenital stenosis of aqueduct of sylvius: A very rare disorder where there is a buildup of cerebrospinal fluid inside the skull due to a narrow canal that connects the third and fourth ventricles of the brain.
  • Hydrocephalus obesity hypogonadism: A very rare syndrome characterized mainly by obesity, buildup of fluid inside the skull (hydrocephalus) and impaired sex hormone production.
  • Hydrocephalus skeletal anomalies: A condition characterized by the association of hydrocephalus (buildup of fluid inside the brain) and skeletal anomalies.
  • Hydrocephaly: A condition which is characterized by marked dilatation of the cerebral ventricles
  • Hydrocephaly tall stature joint laxity: A very rare disorder characterized mainly by the association of excessive fluid in the skull (hydrocephaly), tall stature and loose joints. Various other anomalies may also be present.
  • Hydrocephaly tall stature joint laxity and kyphoscoliosis: A very rare disorder characterized mainly by the association of excessive fluid in the skull (hydrocephaly), tall stature, loose joints and kyphoscoliosis. Various other anomalies may also be present.
  • Hydroxychloroquine - Teratogenic Agent: There is evidence to indicate that exposure to Hydroxychloroquine (an antimalarial drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Hydroxyprogesterone - Teratogenic Agent: There is evidence to indicate that exposure to Hydroxyprogesterone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Hydroxyzine - Teratogenic Agent: There is evidence to indicate that exposure to Hydroxyzine (an antihistamine) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Hyperinsulinemic hypoglycemia, familial, 1: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF1 is due to a mutation in the gene for SUR1 (surfonlyurea receptor 1) on chromosome 11p15.1.
  • Hyperinsulinemic hypoglycemia, familial, 2: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF2 is due to a mutation in the gene for Kir6.2 on chromosome 11p15.1.
  • Hyperinsulinemic hypoglycemia, familial, 3: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF3 is due to a mutation in the gene for glucokinase on chromosome 7p15-p13.
  • Hyperinsulinemic hypoglycemia, familial, 4: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF4 is due to a mutation in the gene for 3-hydroxyacyl-CoA dehydrogenase on chromosome 4q22-q26.
  • Hyperinsulinemic hypoglycemia, familial, 5: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF5 is due to a mutation in the insulin receptor gene on chromosome 19p13.2.
  • Hyperinsulinemic hypoglycemia, familial, 6: A disorder where too much insulin causes low blood sugar in infants. Prompt treatment is needed to avoid the brain being damaged by repeated periods of low blood sugar. The various types of familial hyperinsulinemic hypoglycemia are distinguished by their genetic origin. HHF6 is due to a mutation in the GLUD1 gene on chromosome 10q23.3.
  • Hyperlipoproteinemia: Hyperlipoproteinemia is a medical term for high levels of lipids in the blood which in turn causes high cholesterol levels. Lipoproteins are responsible for transporting cholesterol in the bloodstream and high levels of them in the bloodstream means that there are high levels of cholesterol in the bloodstream.
  • Hyperpipecolatemia: A rare metabolic disorder characterized by high blood levels of pipecolic acid.
  • Hyperprolinemia: A very rare inherited metabolic disorder involving high levels of proline in the blood and urine due to a deficiency of the enzyme proline oxidase. There are two subtypes of the disorder with type II being more severe (higher blood levels of praline). Type I is generally asymptomatic wheras type II tends to involve neurological symptoms.
  • Hyperprolinemia type II: A very rare inherited metabolic disorder involving high levels of proline in the urine due to a deficiency of the enzyme delta-pyrrolidine 5-carboxylate acid dehydrogenase. Blood proline levels are higher than for hyperprolinemia type I.
  • Hypertelorism - esophageal abnormalities - hypospadias: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
  • Hypertelorism with esophageal abnormality and hypospadias: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
  • Hypertension due to coarctation of the aorta: Hypertension due to coarctation of the aorta is high blood pressure resulting from a birth defect where a heart blood vessel called the aorta is abnormally narrowed. The high blood pressure tends to affect mainly the upper part of the body. Babies and very young children tend to have more severe symptoms as the degree of narrowing tends to be greater than in older children or adults.
  • Hyperthermia induced defects: A rare disorder where hypothermia during pregnancy results in infant abnormalities involving growth, development and brain dysfunction.
  • Hypodermyasis: A parasitic infection by the larva of certain flies (Hypoderma bovis or H. lineatum). These flies are usually parasites that infect cattle in the warmer areas of the northern hemisphere. Humans are accidental hosts who may inadvertently swallow the eggs. Symptoms depend on where the larva migrate to - neurological and eye symptoms are more likely to produced severe symptoms.
  • Hypomelanosis of Ito: A rare genetic neurocutaneous disorder characterized by unusual patterns of depigmented skin and associated disorders such as seizures, psychomotor retardation and eye abnormalities.
  • Hypomyelination and congenital cataract: An inherited disorder characterized by congenital cataract and progressive neurological impairment due to reduced myelination of nerves.
  • Hypospadias - hypertelorism: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
  • Hypothalamic hamartomas: A benign congenital tumor that develops on or near the hypothalamus.
  • Ichthyohepatotoxication: Ichthyohepatotoxication is a condition caused by eating the liver of certain fish. It is believed that the high vitamin A content of the liver leads to vitamin A overdose and the resulting symptoms. Tropical shark livers are associated with this condition.
  • Idiopathic Pulmonary Fibrosis: Lung fibrosis from unknown causes.
  • Idiopathic hypereosinophilic syndrome: A rare blood disorder where the bone marrow produces too many eosinophils over a long period of time which can cause organ or tissue damage. The disorder can affect and part of the body but most often affects the skin, heart and nervous system. The increased eosinophil production continues for a long period of time (at least 6 months) and there is no apparent cause.
  • Idiopathic liver cirrhosis: Cirrhosis is defined histologically as a diffuse hepatic process characterized by fibrosis and the conversion of normal liver architecture into structurally abnormal nodules. The progression of liver injury to cirrhosis may occur over weeks to years.
  • Immune Thrombocytopenic Purpura: Reduced blood platelets causing visible skin blemishes from bleeding or bruising.
  • Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency: Susceptibility to infection as a result of a genetic defect which affects immunity. Infections tend to be severe and can be life-threatening.
  • Immunosuppressive Measles Encephalitis: A rare complication of the measles virus. Some patients with a history of measles before the age of two develop progressive brain inflammation. The condition is rare and tends to only occur only in immunosuppressed children e.g. those who have acute lymphocytic leukemia. Symptoms may develop suddenly and tends to occur from weeks to months after the measles has resolved.
  • Inapsine - Teratogenic Agent: There is evidence to indicate that exposure to Inapsine (an antinausea and antipsychotic drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Inborn amino acid metabolism disorder: A group of inherited disorders where the body is not able to metabolize amino acids consumed in the diet. Amino acids are a part of carbohydrates, fats and proteins and are metabolized in order to provide energy or to make other needed compounds. There are many steps involved in metabolism and the severity can be greatly variable depending on the exact nature of the disorder.
  • Inborn urea cycle disorder: A genetic disorder involving a deficiency of one of the enzymes needed in the urea cycle. The urea cycle is the process of removing ammonia from blood stream by converting it to urea and excreting it via urine. A build-up of ammonia in the blood is toxic to the body and can cause serious brain damage. The progressively severe symptoms usually become obvious within the first few weeks of birth. Nevertheless, mild or partial enzyme deficiencies may cause little or no symptoms or symptoms that don't start until later in life.
  • Increased intracranial pressure: Increased pressure inside the skull due to brain swelling or fluid accumulation
  • India tick typhus: An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and the incubation period is usually between 6 and 10 days.
  • Indian tick fever: An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and the incubation period is usually between 6 and 10 days.
  • Indigo Carmine - Teratogenic Agent: There is evidence to indicate that exposure to Indigo Carmine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Infant Cytomegalic virus: A serious CMV viral infection in newborns.
  • Infantile hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate. The condition becomes noticeably during infancy and involves a period of normal development (about 6 months) followed by deterioration due to bone demineralization.
  • Infantile sialic acid storage disorder: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. The disorder results in death within the first few years of life - usually in infancy.
  • Infantile spasms - broad thumbs: A very rare syndrome characterized mainly by spasms during infancy and broad thumbs.
  • Infection: Infections as a symptom.
  • Infectious meningitis: Infectious meningitis is meningitis caused by bacterial, viral, or protozoan infection. Most of the agents known to cause meningitis are infectious, but very few people exposed to them will get meningitis. Those at greatest danger include people with AIDS, infants, transplant patients, and others whose immune systems may be compromised.
  • Inhalant abuse: Inhalant abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Inhalants include gasoline, adhesives, solvents, and aerosols. These inhalants can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
  • Inhalant addiction: Inhalant addiction refers to the compulsive need to abuse inhalants (e.g. inhaling them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Inhalants are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Inhalants includes glues, shoe polish, household cleaners, room deodorizers and nail polish removers.
  • Iniencephaly: A rare type of neural tube defect where the head is positioned in a backward bent angle and the spine is malformed.
  • Insect sting allergies: When a person has an allergic reaction at the site of an insect sting
  • Interferon Beta - Teratogenic Agent: There is evidence to indicate that exposure to Interferon Beta during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Intermediate cystinosis: Cystinosis is a condition where excess amino acid cystine builds up to harmful levels in the body. The intermediate form of cystinosis starts later than the nephropathic form but the symptoms are the same.
  • Intracranial arachnoid cysts: A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the brain. The type and severity of symptoms is determined by the size and location of the cyst.
  • Intracranial arteriovenous malformation: A congenital malformation where there is an opening that connects an artery with a vein inside the brain. Severity of symptoms is determined by the extent of the malformation.
  • Intracranial germ cell tumour: A brain tumor that arises from germ (sex) cells. This type of tumor tends to occur in patients under the age of 30, usually in the second decade. Symptoms depend on the size, exact location and rate of growth of the tumor.
  • Intrauterine infections: Infection of the fetus while still inside the womb. The type and severity of symptoms is determined by the type of infection and at what stage of pregnancy it occurs. Some cases are mild enough to be asymptomatic and others are severe enough to cause a miscarriage.
  • Invasive candidiasis: Severe fungal infection usually in immunocompromised persons
  • Ischemia: Inadequate blood supply to tissues, usually caused by a problem in the blood vessel.
  • Isotretinoin - Teratogenic Agent: There is evidence to indicate that exposure to Isotretinoin (an acne treatment drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Isotretinoin embryopathy like syndrome: A very rare syndrome which causes the same abnormalities and deformities that occur in fetal exposure to maternal use of isotretinoin.
  • Israeli spotted fever: An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and the incubation period is usually between 6 and 10 days.
  • Ivemark III: A very rare genetic disorder characterized by an absent or divided spleen, imperforate anus, neurological symptoms ambiguous genitalia and other anomalies.
  • Japanese encephalitis: A form of encephalitis caused by a flavivirus (Japanese B encephalitis virus - JBEV) and transmitted by mosquito bites. Most cases are mild and asymptomatic but severe cases can lead to death.
  • Jeune syndrome: A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation.
  • Jin Bu Huan-induced lead poisoning: Jin Bu Huan is a folk remedy used mainly by Chinese people to treat pain. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Juvenile pilocytic astrocytoma: A type of brain tumor that occurs in children and young adults. The tumor is derived from a type of cell called an astrocyte and it can occur in various parts of the brain as well as the optic pathways and the spinal cord. Malignancy is rare. Symptoms may vary depending on the size and location of the tumor.
  • Kandu-induced lead poisoning: Kandu (red powder) is a folk remedy used mainly by Asian and Indian people to treat intestinal problems. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Katayama fever: An acute disease due to infection with Schistosoma parasites. Transmission can occur through contact with infected waters.
  • Kearns-Sayre Syndrome: A rare neuromuscular disorder characterized by pigmented deposits on the retina, heart disease and progressive paralysis of some eye muscles.
  • Kenya fever: An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and the incubation period is usually between 6 and 10 days.
  • Kenya tick typhus: An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and the incubation period is usually between 6 and 10 days.
  • Kenya tick-bite fever: An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and the incubation period is usually between 6 and 10 days.
  • Keratosis follicularis - dwarfism - cerebral atrophy: A very rare syndrome characterized mainly by dwarfism, brain degeneration and a hair follicle disorder.
  • Kernicterus: passage of bilirubin though the blood brain barrier
  • Kifafa seizure disorder: A rare form of seizure involving head nodding prior to the seizure and often associated with neurological symptoms and Parkinson-like symptoms.
  • King Cobra poisoning: The King Cobra is a large venomous snake usually found in southeast Asia and India. Most bites from this snake results in envenomation due to the ferocity of their bite. The poison primarily affects the neuromuscular system but can also affect blood clotting.
  • Kleeblattschaedel syndrome: A very rare syndrome characterized mainly by a head the is somewhat cloverleaf shaped.
  • Klippel Feil Syndrome: A rare congenital disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
  • Klippel Feil deformity conductive deafness absent vagina: A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
  • Klippel-Feil syndrome recessive type: A rare recessively inherited disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
  • Klippel-Feil syndrome, dominant type: A rare dominantly inherited disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
  • Kohl-induced lead poisoning: Kohl is a folk remedy used mainly by various ethnic groups (e.g. Africans, Asians, Indians and Pakistanis) to treat skin infections and to manage the umbilical stump. It is also used as a cosmetic in Arab communities. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Krause syndrome: A syndrome involving the abnormal development of the eye and cerebral portion of the brain. It most often occurs in premature infants or an infant from a multiple birth. It is believed to possibly result from intercurrent infections in the mother, placental abnormalities and hemorrhages that occur during the second trimester of the pregnancy.
  • Kushta-induced lead poisoning: Kushta is a folk remedy used mainly by Indian and Pakistani people as an aphrodisiac and to treat diseases involving organs such as the liver, brain, heart and stomach. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Labrynthitis: Inner ear condition affecting various ear structures
  • Lamotrigine - Teratogenic Agent: There is evidence to indicate that exposure to Lamotrigine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Larsen syndrome, recessive type: A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual face.
  • Lateral body wall complex: A very rare syndrome characterized involving the absence of the whole or part of an arm or leg as well as a severe defect of the abdominal wall. Death often occurs at birth.
  • Lathosterolosis: A very rare disorder where an enzyme (sterol C5-desaturase) deficiency prevents the normal synthesis of cholesterol in the body. The deficiency causes various malformations, mental retardation and liver disease.
  • Lead poisoning: A type of heavy metal poisoning caused by excessive exposure to lead.
  • Lead poisoning - African Folk Remedies - Kohl: Kohl is a folk remedy used mainly by African people to treat skin infections and to manage the umbilical stump. It is also used as a cosmetic in Arab communities. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - African Folk Remedies - Surma: Surma is a black powder used as a cosmetic as well as a folk remedy by African people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Aisan Folk Remedies - Chuifong tokuwan: Chuifong tokuwan is a folk remedy used mainly by Asian people to arthritis and other pain. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Asian Folk Remedies - Bali goli: Bali goli (flat black bean) is a folk remedy used mainly by Asian people to treat intestinal problems. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Asian Folk Remedies - Deshi Dewa: Deshi Dewa is a folk remedy by Asian people as a fertility medicine. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Asian Folk Remedies - Ghasard: Ghasard is a lead-containing tetraoxide salt used mainly by Asian and Indian people as a tonic (usually for indigestion). This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Asian Folk Remedies - Kandu: Kandu (red powder) is a folk remedy used mainly by Asian people to treat intestinal problems. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Asian Folk Remedies - Kohl: Kohl is a folk remedy used mainly by Asian people to treat skin infections and to manage the umbilical stump. It is also used as a cosmetic in Arab communities. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Asian Folk Remedies - Pay-loo-ah: Pay-loo-ah is a folk remedy used mainly by Vietnamese people to treat fever and rash. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Asian Folk Remedies - Surma: Surma is a black powder used as a cosmetic as well as a folk remedy by Asian people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Chinese Folk Remedies - Ba Bow Sen: Ba Bow Sen is a folk remedy used mainly by Chinese people to treat childhood hyperactivity and to alleviate nightmares. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Chinese Folk Remedies - Cordyceps: Cordyceps is a folk remedy by Chinese people to treat high blood pressure, bleeding problems and diabetes. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Chinese Folk Remedies - Hai Ge Fen: Hai Ge Fen is clamshell powder used mainly by Chinese people to make traditional Chinese herbal medicines. This product has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Chinese Folk Remedies - Jin Bu Huan: Jin Bu Huan is a folk remedy used mainly by Chinese people to treat pain. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Chinese Folk Remedies - Po Ying Tan: Po Ying Tan is a folk remedy used mainly by Chinese people to treat minor childhood complaints. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Chinese Folk Remedies - Rueda: Rueda is a lead-containing folk remedy used mainly by Chinese people to treat infant colic or to calm young children. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Folk Remedies: A number of folk remedies have the potential to cause lead poisoning due to their relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. The high content of lead in some folk remedies can cause symptoms of lead poisoning which can result in serious illness and even death in severe cases.
  • Lead poisoning - Hispanic Folk Remedies - Alarcon: Alarcon is a folk remedy used mainly by Hispanic people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Hispanic Folk Remedies - Azarcon: Azarcon is a lead-containing tetraoxide salt used mainly by Hispanic people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Hispanic Folk Remedies - Coral: Coral is a lead-containing tetraoxide salt used mainly by Hispanic people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Hispanic Folk Remedies - Greta: Greta is a lead-containing tetraoxide salt used mainly by Hispanic people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Hispanic Folk Remedies - Liga: Liga is a lead-containing tetraoxide salt used mainly by Hispanic people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Hispanic Folk Remedies - Luiga: Luiga is a folk remedy used mainly by Hispanic people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Hispanic Folk Remedies - Maria Luisa: Maria Luisa is a lead-containing tetraoxide salt used mainly by Hispanic people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Indian Folk Remedies - Deshi Dewa: Deshi Dewa is a folk remedy by Indian people as a fertility medicine. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Indian Folk Remedies - Kandu: Kandu (red powder) is a folk remedy used mainly by Indian people to treat intestinal problems. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Indian Folk Remedies - Kohl: Kohl is a folk remedy used mainly by Indian people to treat skin infections and to manage the umbilical stump. It is also used as a cosmetic in Arab communities. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Indian Folk Remedies - Kushta: Kushta is a folk remedy used mainly by the Indian people as an aphrodisiac and to treat diseases involving organs such as the liver, brain, heart and stomach. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Indian Folk Remedies - Surma: Surma is a black powder used as a cosmetic as well as a folk remedy by Indian people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Iranian Folk Remedies - Bint Al Zahab: Bint Al Zahab is a folk remedy used mainly by Iranian people to treat infant colic and to facilitate the passage of meconium in newborns. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Kuwait Folk Remedies - Bokhoor: Bokhoor is a traditional used mainly by Kuwait people to calm infants - it involves burning wood and lead sulphide and inhaling the fumes that are produced. This practice has the potential to cause lead poisoning due to the relatively high exposure to lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Loas Folk Remedies - Pay-loo-ah: Pay-loo-ah is a folk remedy used mainly by the Hmong people from Loas to treat fever and rash. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Mexican Folk Remedies - Alarcon: Alarcon is a folk remedy used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Mexican Folk Remedies - Albayaidle: Albayaidle is a folk remedy used mainly by Mexican people to treat digestive or stomach problems such as vomiting and colic. It is also used to treat apathy and lethargy. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Mexican Folk Remedies - Albayalde: Albayalde is a folk remedy used mainly by Mexican people to treat digestive or stomach problems such as vomiting and colic. It is also used to treat apathy and lethargy. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Mexican Folk Remedies - Azarcon: Azarcon is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Mexican Folk Remedies - Coral: Coral is a folk remedy used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Mexican Folk Remedies - Greta: Greta is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Mexican Folk Remedies - Liga: Liga is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Mexican Folk Remedies - Luiga: Luiga is a folk remedy used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Mexican Folk Remedies - Maria Luisa: Maria Luisa is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Middle East Folk Remedies - Surma: Surma is a black powder used as a cosmetic as well as a folk remedy by Middle East people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Middle Eastern Folk Remedies - Alkohl: Alkohl is a folk remedy used mainly by Middle Eastern people to treat skin infections and to manage the umbilical stump. It is also used as a cosmetic in Arab communities. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Middle Eastern Folk Remedies - Anzroot: Anzroot is a folk remedy used mainly by Middle Eastern people to treat gastroenteritis. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Middle Eastern Folk Remedies - Cebagin: Cebagin is a folk remedy used mainly by Middle Eastern people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Middle Eastern Folk Remedies - Henna: Henna is used mainly by Middle Eastern people as a hair and skin dye. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Middle Eastern Folk Remedies - Kohl: Kohl is a folk remedy used mainly by Middle Eastern people to treat skin infections and to manage the umbilical stump. It is also used as a cosmetic in Arab communities. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Middle Eastern Folk Remedies - Saoot: Saoot is a folk remedy used mainly by Middle Eastern people to treat digestive eye injuries, teething and to manage the umbilical stump in newborns. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Pakistan Folk Remedies - Kohl: Kohl is a folk remedy used mainly by Pakistani people to treat skin infections and to manage the umbilical stump. It is also used as a cosmetic in Arab communities. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Pakistan Folk Remedies - Kushta: Kushta is a folk remedy used mainly by the Pakistani people as an aphrodisiac and to treat diseases involving organs such as the liver, brain, heart and stomach. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Pakistan Folk Remedies - Surma: Surma is a black powder used as a cosmetic as well as a folk remedy by Pakistani people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Pakistani eye cosmetics: Exposure to lead can result from the use of Pakistani eye cosmetics contaminated with lead. The most frequent cases have been noted in children as they are more sensitive to the effects of lead. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
  • Lead poisoning - Saudi Arabian Folk Remedies - Al Murrah: Al Murrah is a folk remedy used mainly by Saudi Arabian people to treat problems such as stomach pain, diarrhea and colic. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Saudi Arabian Folk Remedies - Bint Dahab: Bint Dahab is a folk remedy used mainly by Saudi Arabian people to treat such things as constipation, diarrhea, colic and various other infant conditions. It is also used by Saudi Arabian jewelers. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Saudi Arabian Folk Remedies - Bokhoor: Bokhoor is a traditional used mainly by Saudi Arabian people to calm infants - it involves burning wood and lead sulphide and inhaling the fumes that are produced. This practice has the potential to cause lead poisoning due to the relatively high exposure to lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Saudi Arabian Folk Remedies - Farouk: Farouk is a folk remedy by Saudi Arabian people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Saudi Arabian Folk Remedies - Santrinj: Santrinj is a paint primer but is also used as a folk remedy mainly by Saudi Arabian people to treat teething and gum boils. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Saudi Folk Remedies - Traditional Saudi medicine: Traditional Saudi medicine is a folk remedy used mainly by Saudi people to treat teething and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lead poisoning - Tamarind candy: Eating tamarind candy jam products made in Mexico can lead to exposure to lead as the product is often packaged in lead-containing containers which can leach lead. The most frequent cases have been noted in children as they are more sensitive to the effects of lead. Elevated levels of lead in the blood can cause various symptoms depending on the severity and duration of the exposure.
  • Lead poisoning - Tibetan Folk Remedies - Tibetan herbal vitamin: Tibetan herbal vitamin is a folk remedy used mainly by Tibetan people to improve brain functioning. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lemierre's syndrome: A very rare condition where a throat infection leads to secondary infection and blood clot formation in the internal jugular vein. The infected blood clot can then travel to other parts of the body and cause problems. The usual bacterial culprit is Fusobacterium necrophorum.
  • Lennox-Gastaut Syndrome: A form of epilepsy that occurs mostly in preschool-aged children and is characterized mainly by absences.
  • Leptospirosis: Bacterial infection usually caught from animal urine.
  • Leukodystrophy with oligodontia: A very rare syndrome characterized mainly by missing teeth and progressive ataxia.
  • Lhermitte-Duclos disease: A rare disorder characterized by a slow growing brain tumor located in the cerebellum.
  • Li-Fraumeni syndrome: A rare inherited disorder characterized by tumor development by young adulthood.
  • Liga-induced lead poisoning: Liga is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Limb symptoms: Symptoms affecting the limbs
  • Limbic encephalitis: Inflammation of the limbic system which is the part of the brain responsible for basic autonomic functions.
  • Lindstrom syndrome: A rare disorder characterized by mental retardation, facial anomalies, short stature and seizures.
  • Lipomyelomeningocele: A rare congenital condition where a fatty mass is attached to the spinal cord and protrudes through a defect in the spinal cord. It forms a mass under the skin and damage to this mass or compression of adjacent spinal cord can have neurological consequences. Compression effects are more likely to occur if the patient gains or loses weight rapidly - especially during growth spurts. It can develop anywhere along the spine but is less common in the neck and upper regions of the spine. The condition is often associated with other congenital abnormalities such as cloacal malformations or imperforate anus. The severity of the condition is variable depending on whether neurological symptoms develop due to the attachment to the spinal cord.
  • Lipoproteinemia: A disorder in which the proteins that carry fat around the body are defective.
  • Lissencephaly type III - familial foetal akinesia sequence: A rare brain malformation where the surface of the brain is smoother than normal. Fetal akinesia sequence is also present and is characterized by the absence of fetal movement and degeneration of the brain and spinal cord.
  • Listeriosis: Bacterial food poisoning
  • Listeriosis - granulomatous infantiseptica: Listeria monocytogenes infection that is transmitted from a pregnant woman to the fetus.
  • Listeriosis meningoencephalitis: Listeria monocytogenes infection of the brain and meninges that can occur in immunocompromised people or newborns.
  • Lithium - Teratogenic Agent: There is evidence to indicate that exposure to Lithium during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Liver cancer: The occurrence of malignancy that occurs in the liver
  • Liver failure: When the liver fails to function
  • Liver vein outflow obstruction: Budd-Chiari syndrome is the clinical picture caused by occlusion of the hepatic veins. It presents with the classical triad of abdominal pain, ascites and hepatomegaly.
  • Lockwood-Feingold syndrome: A rare genetic disorder characterized mainly by arthritis, skeletal abnormalities and a lack of subcutaneous fat.
  • Lovastatin - Teratogenic Agent: There is evidence to indicate that exposure to Lovastatin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Lucey Driscoll syndrome: A rare condition characterized by severe jaundice at birth and caused by the presence of a gestational hormone that passes from the mother to the infant across the placenta but eventually disappears after birth. Excessive jaundice result in kernicterus can cause complications such as brain damage.
  • Luiga-induced lead poisoning: Coral is a folk remedy used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Lung symptoms: Symptoms affecting one or both lungs.
  • Lupus: Autoimmune disease with numerous effects on various organs and linings.
  • Lyme disease: Lyme disease is an emerging infectious disease caused by at least three species of bacteria belonging to the genus Borrelia.
  • Lymphocytic choriomeningitis: Rodent-borne viral disease often causing meningitis or encephalitis
  • Lysergic Acid Diethylamide - Teratogenic Agent: There is evidence to indicate that exposure to Lysergic Acid Diethylamide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Lyssavirus: A group of viruses that infect mammals and arthropods
  • Lysteria monocytoigeneses meningitis: A very rare form of meningitis (bacterial infection of the brain membrane or meninges) caused by Listeria monocytogenes. The condition is more common in the elderly and those with poor immune system and death is common.
  • MELAS: A mitochondrial disorder characterized by stroke-like episodes, headaches, vomiting and other neurological symptoms.
  • MN1: A rare genetic defect that can cause meningiomas to develop. A meningioma is a tumor of the meninges which is a membrane that encloses the brain and spinal cord The genetic defect occurs on chromosome 22. The tumor is usually slow-growing and benign.
  • MRXS-Christianson: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
  • MURCS Association: A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
  • Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations: A very rare syndrome characterized mainly by a large head, short stature and central nervous system problems.
  • Mal de debarquement: Imbalance that occurs after being exposed to motion such as on a boat. It differs to normal motion sickness in that symptoms can last months or even years and may be quite debilitating.
  • Malaria: A parasitic disease transmitted through mosquito bites.
  • Malformations in neuronal migration: A rare disorder where the brain fails to develop normally - usually the cerebral cortex is involved. Various parts of the brain can be affected to various degrees depending on what stage of development the defect occurs. Mental retardation is one of the most common symptoms associated with brain malformations.
  • Malignant astrocytoma: A very malignant primary brain tumor consisting of astrocytes. The tumor spreads throughout the brain and a third of patients dying in the first year.
  • Malignant germ cell tumor: Malignant tumors that are made up of germ cells which are immature cells that eventually become reproductive system tissues in males and females. The symptoms depend on the location of the tumor which may occur in the ovaries, testes or anywhere along the body's midline such as the chest, head, abdomen, pelvis and lower back.
  • Malignant hypertension: Malignant hypertension is a condition characterized by very high blood pressure and swelling of the optic nerve. This type of hypertension is more common in people with kidney problems such as narrowed kidney blood vessels. The condition is a medical emergency which can cause organ damage if not treated promptly.
  • Malignant hyperthermia: A very rare genetic disorder where sufferers suffer episodes of adverse reactions when certain anesthetics or muscle relaxants are administered.
  • Malignant rhabdoid tumors: An aggressive malignant tumor that occurs in children. Symptoms depend on the location of the tumor. The tumors often form in the kidneys and then tend to metastasize to the brain and sometimes the lungs. Symptoms will vary depending on the location of the tumor.
  • Maria Luisa-induced lead poisoning: Maria Luisa is a lead-containing tetraoxide salt used mainly by Mexican people to treat digestive or stomach problems including indigestion and diarrhea. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Marie-Seé Syndrome: A sudden buildup of fluid inside the skull (hydrocephalus) in infants who are given large doses of vitamin A. Symptoms tend to occur about 12 hours after the receiving the vitamin A and usually last for a day or two.
  • Marinesco-Sjogren-like syndrome (MSLS): A very rare disorder characterized by cataracts (during childhood), mental retardation, muscle weakness and brain degeneration. The disorder is very similar to another syndrome called Marinesco-Sjogren syndrome.
  • Marseilles fever: An infectious disease that is caused by Rickettsia conorii which is transmitted by the brown dog tick (Rhipicephalus sanguineus). The disease occurs predominantly in Mediterranean areas such as India and Africa. The onset of symptoms is usually sudden and the incubation period is usually between 6 and 10 days.
  • Mastoiditis: Inflammation of a bone behind the ear
  • May-Hegglin Anomaly: A rare inherited blood disorder involving abnormalities in some of the blood components (platelets and certain leukocytes). Some patients develop bleeding problems whereas other remain asymptomatic.
  • Mayer-Rokitansky-Kuster-Hauser, syndrome, type 2 (MRKH type 2): A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
  • Measles: Once common viral infection now rare due to vaccination.
  • Measles Encephalitis in Children with Immunosuppression: A rare complication of the measles virus. Some patients with a history of measles before the age of two develop progressive brain inflammation. The condition is rare and tends to only occur only in immunosuppressed children e.g. those who have acute lymphocytic leukemia. Symptoms may develop suddenly and tends to occur from weeks to months after the measles has resolved.
  • Meckel Syndrome: A rare genetic disorder involving numerous abnormalities and characterized by death within the first few weeks.
  • Medium-Chain Acyl-CoA Dehydrogenase Deficiency: A rare disorder where the body lacks enzymes needed to convert some fats (medium-chain fatty acids) into energy and hence these fats build up in the body and cause damage.
  • Medulloblastoma: A type of brain tumor.
  • Megalencephalic leukoencephalopathy with subcortical cysts: A very rare syndrome characterized mainly by a progressive brain destruction that causes mental retardation and incoordination that starts early in life.
  • Megalencephaly: Abnormally large brain.
  • Megalencephaly - cutis marmorata telangiectatica congenita: A very rare syndrome characterized mainly by an enlarged brain, neurological abnormalities and a blood vessel abnormality that gives the skin a marbled appearance.
  • Megalencephaly - polymicrogyria - post-axial polydactyly - hydrocephalus: A rare syndrome characterized mainly by brain abnormalities, extra digits and a excess fluid inside the skull.
  • Melanoma: Melanoma is the most dangerous type of skin cancer. It is the leading cause of death from skin disease. It involves cells called melanocytes, which produce a skin pigment called melanin. Melanin is responsible for skin and hair color.
  • Melanoma - astrocytoma syndrome: A rare syndrome characterized by the association of a melanoma with a type of brain tumor called an astrocytoma. The exact symptoms may vary depending on the exact location of the brain tumor.
  • Melioidosis: Bacterial infection from soil or water.
  • Meningioma: A slow-growing tumor of the meninges that is not cancerous. Symptoms are determined by the size and location of the tumor.
  • Meningitis: Infection of the membrane around the brain (as a symptom)
  • Meningocele: A condition which is characterized by a protrusion of the meninges of the brain or spinal cord through a defect in the spinal cord
  • Meningococcal A: Meningococcal meningitis is an infection that causes inflammation of the membranes covering the brain and spinal cord. Meningococcal meningitis A is caused by meningococcus A which is mostly common in hyperendemic areas in Africa known as the meningitis belt.
  • Meningococcal B: Meningococcal meningitis B is an infection that causes inflammation of the membranes covering the brain and spinal cord.
  • Meningococcal C: Meningitis C is a strain of meningococcal meningitis, a bacterial infection of the membranes surrounding the brain and spinal cord.
  • Meningococcal disease: Dangerous bacterial infection causing meningitis or bacteremia.
  • Meningoencephalitis: A condition which is characterized by inflammation of the brain and meninges
  • Meningoencephalocele: A very rare developmental disorder where a part of the membrane that covers the brain and or part of the brain itself protrudes through an abnormal opening in the skull. The condition may be asymptomatic or if the defect is large, severe neurological abnormalities may result.
  • Meningomyelocele: A very rare developmental disorder where a part of the membrane that covers the spinal cord and part of the spinal cord itself protrudes through an abnormal opening in the bones of the spinal column. The condition may be asymptomatic or if the defect is large, severe neurological abnormalities may result.
  • Menkes Disease: Genetic disease of copper deficiency.
  • Menopause: End of female reproductive years
  • Mental retardation X-linked, South African type: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation.
  • Mental retardation progressive spasticity, X-linked: A very rare syndrome characterized mainly by mental retardation and progressive spasticity and seizures. The disorder is X-linked and hence only affects males.
  • Mental retardation, Buenos Aires type: A very rare syndrome characterized mainly by mental retardation, physical retardation, unusual facial appearance and heart and kidney defects.
  • Mental retardation, Microcephaly, Epilepsy and Ataxia Syndrome: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
  • Mental retardation, X-linked - craniofacial dysmorphology - epilepsy - ophthalmoplegia - cerebellar atrophy: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
  • Mental retardation, X-linked, Reish type: A rare disorder characterized by mental retardation, brain anomalies, skeletal malformations, intestinal problems, eye and ear anomalies, cleft palate and kidney abnormalities. Some infants with the disorder die soon after birth due to breathing problems. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
  • Mercury poisoning: A type of heavy metal poisoning caused by excessive exposure to mercury.
  • Methamphetamine - Teratogenic Agent: There is evidence to indicate that exposure to Methamphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Methamphetamine overdose: Methamphetamine is a prescription drug mainly used to treat ADHD . Excessive doses of the drug can result in various symptoms and even death in severe cases.
  • Methotrimeprazine - Teratogenic Agent: There is evidence to indicate that exposure to Methotrimeprazine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Methylcobalamin deficiency, cbl E complementation type: An inherited organic acid disorder where an enzyme deficiency (cbl E) impairs the body's ability to break down cobalamin in the diet. This results in a buildup of homocystine which results in harmful affects.
  • Methylmalonic acidemia, synthesis defect of AdoCbl and MeCbl: An inherited organic acid disorder where an enzyme deficiency impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of glycine and methylmalonic acid which results in harmful affects. The disorder results from a combined synthesis defect of AdoCbl and MeCbl.
  • Methylmalonic aciduria - homocystinuria: A rare group of disorders characterized by methylmalonic aciduria and homocystinuria resulting from abnormal metabolism of vitamin B12 by the liver. There are various subtypes of the condition with varying ages of onset and severity of symptoms.
  • Methylmalonic aciduria - microcephaly - cataract: A very rare syndrome characterized mainly by excess methylmalonic acid in the urine, small head and cataracts.
  • Methylmalonicaciduria with homocystinuria, cobalamin F: An inherited organic acid disorder where an enzyme deficiency (cbl F) impairs the body's ability to break down certain proteins (methionine, threonine, isoleucine and valine) consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects.
  • Metoclopramide - Teratogenic Agent: There is evidence to indicate that exposure to Metoclopramide during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Metronidazole - Teratogenic Agent: There is evidence to indicate that exposure to Metronidazole during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Microcephalic osteodysplastic primordial dwarfism types 1 and 3: Microcephalic osteodysplastic primordial dwarfism types 1 and 3 were originally regarded as separate conditions but it was recently concluded that they were different expressions of the same condition. The main differences between the two forms is a difference in the radiological bone anomalies. The condition is characterized mainly by bone abnormalities, short stature and a small head.
  • Microcephalic osteodysplastic primordial dwarfism, type 1: A form of dwarfism associated with brain and skeletal abnormalities.
  • Microcephaly brain defect spasticity hypernatremia: A rare syndrome characterized mainly by a small head, brain defect, spasticity and high sodium level.
  • Microcephaly, hiatal hernia and nephrotic syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease.
  • Micromelic bone dysplasia with cloverleaf skull: A rare disorder characterized by a cloverleaf skull deformity, small limbs and bone abnormalities of the chest and spine. The disorder is lethal.
  • Microphthalmia syndromic, type 10: A rare inherited syndrome characterized mainly by small eyes and wasting of brain tissue.
  • Microphthalmia, syndromic 7: A rare genetic disorder characterized by eye and skin abnormalities involving irregular red streaks of skin on the head and neck.
  • Middle ear infection: An infection which occurs in the middle ear
  • Midline field defects: Congenital problems that occur along the vertical axis of the body. Defects can involve the brain, spine, heart, genitals and midline of the head and face.
  • Mild citrullinemia: Citrullinemia is an inherited urea cycle disorder which causes toxic substances including ammonia to build up in the blood. There are two main subtypes of Citrullinemia (I and II) which are caused by different genetic abnormalities and result in different symptoms. Milder forms may present in childhood and rare late-onset forms (type II) may not cause symptoms until adulthood.
  • Minoxidil (topical) - Teratogenic Agent: There is evidence to indicate that exposure to Minoxidil (topical) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Mitochondrial diseases: Any of a group of mitochondrial disorders affecting cell metabolism and especially muscles.
  • Mitochondrial diseases, clinically indefinite: An inherited biochemical disorder which can affect many body systems such as the skeleton, heart, brain and nervous system.
  • Mohr syndrome: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
  • Mononucleosis: Common infectious virus.
  • Monosomy 1p36: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The range and severity of symptoms is variable with some cases being relatively mild.
  • Monosomy 8q12 21: A very rare chromosomal disorder where a portion of chromosome 8q is missing. The main symptoms include eye, ear and kidney abnormalities as well as mental retardation.
  • Morning Glory Fundus Anomaly - Optic Nerve Coloboma - Porencephaly - Hydronephrosis: A rare condition observed in a newborn and characterized by the association of particular eye, brain and kidney problems.
  • Mosquito bite: Bite from a mosquito.
  • Mosse syndrome: A condition involving the association of liver cirrhosis with polycythemia which is a chronic myeloproliferative disorder characterized by the excessive production of mainly red blood cells by the bone marrow.
  • Mountain fever: A viral disease transmitted through the bite of ticks (Rocky Mountain wood tick and American dog tick) who are infected with the virus. Because the virus infects blood cells including erythrocytes, transmission can also occur through transfusion with infected blood but this is uncommon. Infection is most common in Canada and parts of western US. The incubation period usually lasts between 3 and 6 days but can be as long as a few weeks. The virus tends to cause to periods of fever each lasting for a few days.
  • Mountain tick fever: A viral disease transmitted through the bite of ticks (Rocky Mountain wood tick and American dog tick) who are infected with the virus. Because the virus infects blood cells including erythrocytes, transmission can also occur through transfusion with infected blood but this is uncommon. Infection is most common in Canada and parts of western US. The incubation period usually lasts between 3 and 6 days but can be as long as a few weeks. The virus tends to cause to periods of fever each lasting for a few days.
  • Moyamoya disease: Brain blood vessel disorder.
  • Mucopolysaccharidosis 1: A rare inherited condition caused by the absence of certain lysosomal enzymes which are needed to break down mucopolysaccharides. Without these enzymes, mucopolysaccharides build up in various body organs and tissues which causes harmful effects. There are three subtypes of the condition: Hurler, Scheie and Hurler-Scheie with Hurler being the most severe and Scheie the mildest.
  • Mucopolysaccharidosis type 2 Hunter syndrome- severe form: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (iduronidate 2-sulfatase) needed to break it down.
  • Muller-Barth-Menger syndrome: A rare disorder characterized by brain malformations, seizures, excessive hairiness and overlapping fingers.
  • Mullerian Aplasia - Renal Aplasia - Cervicothoracic Somite Dysplasia: A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
  • Multiinfarct dementia: also known as vascular dementia
  • Multiple Sclerosis: Autoimmune attack on spinal nerves causing diverse and varying neural problems.
  • Multiple system atrophy: A rare disorder where nerve degeneration causes progressive neurological problems involving the central and autonomic nervous system. The rate of progression is variable.
  • Multiple system atrophy (MSA) with orthostatic hypotension: A progressive neurological disorder involving the central and autonomic nervous system.
  • Mumps: An acute viral disease that causes the salivary glands to become swollen, sore and inflamed. Immunization had greatly reduced the incidence of this disease.
  • Myiasis: Infestation of a living body part by maggots.
  • N-acetyl glutamate synthetase deficiency: A rare inherited urea cycle disorder where a lack of a certain enzyme (N-acetyl glutamate synthetase) results in accumulation of ammonia in the blood as it can't be broken down and removed through the urine.
  • NADH CoQ reductase, deficiency of: A rare genetic defect where an enzyme deficiency (NADH CoQ) disrupts cellular processes and causes various organic acid disorders. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. Presentation may range from infantile death to various disorders neurodegenerative disorders such as Leigh's disease, Parkinson's disease and cardiomyopathy.
  • NOMID syndrome: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
  • Nalidixic Acid - Teratogenic Agent: There is evidence to indicate that exposure to Nalidixic Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Narcotic addiction: An uncontrollable desire to use narcotics on a regular basis. The drug may be used as a therapeutic medication for various conditions but it's use is also frequently abused. Examples of narcotic drugs include heroin, morphine, Demerol and codeine. Frequent use leads to an increased tolerance to the drug so higher and higher doses are required to achieve the desired euphoric feeling.
  • Nausea: The queasy feeling of nausea and often also vomiting.
  • Neck stiffness: The feeling of neck stiffness
  • Nelson syndrome I: A rare condition involving the development of a pituitary tumor that produces excess amounts of a hormone called ACTH.
  • Neomycin - Teratogenic Agent: There is evidence to indicate that exposure to Neomycin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Neonatal bacterial meningitis: Bacterial meningitis that occurs in an infant under 3 months of age. Bacterial meningitis is a bacterial brain infection.
  • Neonatal jaundice: A yellow discolouration of the skin which sometimes occurs in newborns
  • Nephropathic cystinosis: Cystinosis is a condition where excess amino acid cystine builds up to harmful levels in the body. The nephropathic form of cystinosis usually starts during infancy and can result in severe complications if untreated.
  • Nephrosis neuronal dysmigration Syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease. The type and severity of symptoms that can occur is variable.
  • Nesidioblastosis of pancreas: A rare genetic disorder where abnormal islets of Langerhans cells in the pancreas produce excess insulin which causes very low blood sugar levels. Untreated low blood sugar can cause permanent brain damage.
  • Neuroaxonal dystrophy, infantile: An inherited disorder involving progressive muscular and coordination problems, impaired brain function and speech and vision impairment.
  • Neurocutaneous melanosis: A rare genetic disorder characterized by melanosis of the skin and central nervous system deterioration.
  • Neurocysticercosis: Brain/CNS infection with the tapeworm Cysticercosis
  • Neurofibromatosis Type 1 (NF-1): Neurofibromatosis Type 1 is a genetic disorder often leading to the development of nerve tumors. The condition is also characterized by skin pigmentation abnormalities.
  • Neurofibromatosis type 3A: A rare genetic disorder characterized by areas of increased and decreased skin pigmentation and the development of many non-cancerous nerve and skin tumors some of which may eventually become malignant. The skin tumors tend to develop characteristically on the palms of the hands.
  • Neurofibromatosis type 3B: A rare genetic disorder characterized by areas of increased and decreased skin pigmentation and the development of many non-cancerous nerve and intestinal tumors some of which may eventually become malignant.
  • Neurofibromatosis, type 4, of Riccardi: A rare genetic disorder characterized by areas of increased and decreased skin pigmentation and the development of many non-cancerous nerve and skin tumors some of which may eventually become malignant.
  • Neurofibromatosis-1: Genetic disorder often leading to tumors on nerves.
  • Neurological symptoms: Any symptoms that are caused by neurological conditions
  • Neurosyphilis: Syphilis affecting the nervous system.
  • Neurosyphilis - general paresis: A complication of untreated syphilis where the infection invades the brain cells and causes a range of neurological symptoms. The condition is progressive and life-threatening.
  • Neurosyphilis - meningovascular: A complication of untreated syphilis where the infection invades the central nervous system and causes cranial nerve palsies and pupil abnormalities.
  • Neurotoxicity syndromes: Altered nervous system functioning caused by exposure to certain chemicals (manmade or natural) that affect the nervous system - essentially it is the poisoning of the nervous system. Examples of toxic compounds that may cause neurotoxicity include lead, certain solvents and pesticides. Symptoms may occur immediately or gradually over a period of time.
  • Niemann-Pick disease: A rare inherited biochemical disorder involving the deficiency of an enzyme (acid sphingomyelinase) needed to break down certain lipids which results in an accumulation of these lipids in the body.
  • Niemann-Pick disease, type A: Niemann-Pick disease is an inherited metabolic disorder where lipids are not able to be metabolized adequately and hence build up and cause damage in various parts of the body such as the spleen, liver, lungs, bone marrow and brain. The different types of the disease are due to different genetic mutations. Type A is a severe infantile form in which death usually occurs by early childhood.
  • Niemann-Pick disease, type C1: Niemann-Pick disease is an inherited metabolic disorder where lipids are not able to be metabolized adequately and hence build up and cause damage in various parts of the body such as the spleen, liver, lungs, bone marrow and brain. The different types of the disease are due to different genetic mutations. Type C is a juvenile or subacute form of the condition which usually starts during childhood and survival into adulthood is possible.
  • Nipah virus encephalitis: Inflammation of the brain caused by the Nipah virus which can infect pigs and humans so transmission usually occurs through contact with pigs.
  • Nitrofurantoin - Teratogenic Agent: There is evidence to indicate that exposure to Nitrofurantoin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Nocardiosis: A rare infectious disease caused by the bacteria Nocardia asteroides which primarily affects the lung but may also involve the brain, soft tissues and other organs.
  • Norethindrone - Teratogenic Agent: There is evidence to indicate that exposure to Norethindrone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Nova syndrome: A very rare syndrome characterized mainly by a birth mark and brain abnormalities.
  • Nutritional deficiency: Any deficiency of the nutrients that are required to sustain human life
  • Nytol - Teratogenic Agent: There is evidence to indicate that exposure to Nytol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • OFD syndrome type 8: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
  • OFD syndrome type Figuera: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps, finger abnormalities and absence of all or part of the fibula.
  • OFD syndrome type IX: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger and retinal abnormalities.
  • Obliterative portal venopathy: A rare condition characterized by abnormal hardening of liver blood vessels (portal veins), portal hypertension and an enlarged spleen. The condition usually occurs in adults but can rarely occur in children. The exact cause of the condition is unknown but various factors have been implicated e.g. genetic predisposition, workplace exposure to inorganic arsenicals, thorium compounds and vinyl chloride monomer.
  • Occupational lead exposure - ammunition production: Exposure to lead can occur in people employed as ammunition makers if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
  • Occupational lead exposure - battery manufacturing: Exposure to lead can occur in people employed in the battery manufacturing industry if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
  • Occupational lead exposure - brass foundry: Exposure to lead can occur in people employed in the brass foundry industry if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
  • Occupational lead exposure - ceramic production: Exposure to lead can occur in people employed in the ceramic production industry if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
  • Occupational lead exposure - explosives production: Exposure to lead can occur in people employed in the explosives production industry if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
  • Occupational lead exposure - furniture refinishing: Exposure to lead can occur in people employed in the furniture refinishing industry if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
  • Occupational lead exposure - lead glass factury: Exposure to lead can occur in people employed in lead glass factories if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
  • Occupational lead exposure - lead mine: Exposure to lead can occur in people employed in lead mines if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
  • Occupational lead exposure - lead smelting: Exposure to lead can occur in people employed in the lead smelting industry if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
  • Occupational lead exposure - painter: Exposure to lead can occur in painters if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
  • Occupational lead exposure - pottery making: Exposure to lead can occur in people involved in pottery making if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
  • Occupational lead exposure - radiator repair: Exposure to lead can occur in people employed in the radiator repair industry. The soldering required to repair the radiator can lead to the lead exposure if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
  • Occupational lead exposure - ship building: Exposure to lead can occur in people employed in the ship building industry if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
  • Occupational lead exposure - ship repairing: Exposure to lead can occur in people employed in the ship repairing industry if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
  • Occupational lead exposure - smelting: Exposure to lead can occur in people employed in the smelting industry if adequate precautions are not taken. Lead exposure can cause elevated levels of lead in the blood which in turn can cause various symptoms depending on the severity and duration of the exposure.
  • Oculocerebral syndrome with hypopigmentation: A rare inherited disorder involving lack of pigmentation and eye and brain defects caused by central nervous system abnormalities.
  • Oculodentoosseous dysplasia dominant: A very rare dominantly inherited syndrome characterized mainly by eye, tooth and finger abnormalities.
  • Oculopalatocerebral syndrome: A rare inherited syndrome characterized mainly by short stature, small head, mental retardation, cleft palate and eye problems.
  • Ofloxacin - Teratogenic Agent: There is evidence to indicate that exposure to Ofloxacin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Oligodendroglioma: Slow-growing brain tumor
  • Olivopontocerebellar atrophy type 3: A disorder where degeneration of certain parts of the brain and spinal cord results in symptoms such as blindness, tremor, speech problems and ataxia.
  • Olivopontocerebellar atrophy, type V: A disorder where degeneration of certain parts of the brain results in symptoms such as tremor, ataxia and mental deterioration.
  • Ondine syndrome: A rare condition involving defects in the mechanism that control breathing.
  • Ondine's curse: A condition involving defects in the mechanism that control breathing.
  • Opitc atrophy and cataract, autosomal dominant: A very rare, dominantly inherited disorder characterized mainly by progressive optic nerve dysfunction, cataracts and neurological symptom. The neurological symptoms are usually very mild or don't even occur.
  • Opitz G Syndrome: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
  • Opitz G/BBB Syndrome: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
  • Opitz G/BBB Syndrome, Type II: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: Type I inherited in a X-linked manner and type II is inherited in an autosomal dominant manner.
  • Opitz G/BBB Syndrome, X-linked: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner. Females with type I tend to have few if any symptoms - often the only symptom is wide-set eyes.
  • Opitz G/BBB Syndrome, type I: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner.
  • Opitz G/BBB syndrome, Autosomal dominant: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner.
  • Opitz syndrome , X-linked: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
  • Optic atrophy and cataract, autosomal dominant: A very rare, dominantly inherited disorder characterized mainly by progressive optic nerve dysfunction, cataracts and neurological symptom. The neurological symptoms are usually very mild or don't even occur.
  • Optic pathway glioma: A type of tumor that arises in the optic nerve which sends messages from the eye to the brain. These tumors tend to occur mainly in children under the age of 10. The tumor may affect the hormone center of the brain and hence can affect such things as growth and weight.
  • Oral facial digital syndrome: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
  • Oral facial digital syndrome, type IV: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps, finger abnormalities, brain defects and short stature.
  • Ornithine Transcarbamylase Deficiency: A rare metabolic disorder where a deficiency of the enzyme ornithine transcarbamylase means that nitrogen isn't removed from the body and builds up in the blood in the form of ammonia.
  • Ornithine transcarbamylase (OTC) Deficiency: A rare metabolic disorder where a deficiency of the enzyme ornithine transcarbamylase means that nitrogen isn't removed from the body and builds up in the blood in the form of ammonia.
  • Orofaciodigital syndrome Thurston type: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
  • Orofaciodigital syndrome type 10: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps, finger abnormalities and absence of all or part of the fibula.
  • Orofaciodigital syndrome, type 3: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger, teeth and eye abnormalities.
  • Oromandibular-limb hypogenesis spectrum: A rare disorder characterized by a spectrum of disorders.
  • Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints
  • Osteogenesis imperfecta congenita, microcephaly, and cataracts: A rare genetic connective tissue disorder charactedrized by blue sclerae, cataracts and microcephaly - a lethal form of osteogenesis imperfecta.
  • Osteogenesis imperfecta, type 2: A rare lethal form of the genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities.
  • Osteogenesis imperfecta, type 2A: A rare lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIA has a different origin of the genetic mutation but the clinical features are similar. Type IIA involves a defect on the COL1A2 gene. The main difference is that type IIA tends to involve a large head and dark blue eyes.
  • Osteogenesis imperfecta, type 3: A rare genetic connective tissue disorder characterized by progressive limb deformity and normal sclerae.
  • Osteogenesis imperfecta, type IIB: A rare, recessively inherited, lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIB has a different origin of the genetic mutation but the clinical features are similar. Type IIB involves a defect on the CRTAP gene on chromosome 3p22. The main difference is that type IIA tends to involve a small head and white or light blue eyes.
  • Osteopetrosis lethal: A severe, lethal form of the brittle bone condition called osteopetrosis.
  • Osteopetrosis, autosomal recessive 2: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. This form is relatively mild with survival possible for a couple of decades in some cases.
  • Osteopetrosis, intermediate form: A recessively inherited bone disease characterized bybrittle bones with increased density. The intermediate form is less severe than the infantile form but more severe than the adult form.
  • Oxycontin overdose: Oxycontin is a prescription drug mainly used to treat pain. Excessive doses of the drug can result in various symptoms and even death in severe cases.
  • PANDAS: A rare disorder characterized by the association of a tic disorder or OCD (obsessive-compulsive disorder) with a streptococcal infection and neuropsychiatric symptoms. The symptoms can start suddenly and recovery is slow with frequent relapses. It is believed that the infection affects a part of the brain that is involved with movement.
  • PEHO-like syndrome: A rare birth disorder characterized by brain anomalies due to prenatal ischemia. Clinically it is the same as true PEHO syndrome but differs in the type of brain abnormality involved. True PEHO syndrome is inherited and tends to involve an underdeveloped cerebellum which is absent in PEHO-like syndrome.
  • PTEN Hamartoma Tumor Syndrome: PTEN Hamartoma Tumor Syndrome is a group of conditions caused by a mutation in the PTEN gene. The primary characteristic of the condition is the development of multiple hamartomas (tumor-like growth) in virtually any part of the body. The growths are generally not cancerous but patients often have an increased risk of developing various cancers. Specific conditions covered by this term are Cowden syndrome, BAnnayan-Riley-Ruvalcaba Syndrome and Proteus syndrome.
  • Paraneoplastic Neurologic Disorders: A term used to describe the distant neurological effects of cancer. It results from an autoimmune attack against antigens present in cancer and the nervous system. Peripheral nerves, central nervous system and muscle controlling nerves may be affected. Often the effects become obvious before the cancer is detected. Types of PNS include Lambert-Eaton myasthenic syndrome, subacute cerebellar ataxia, opsoclonus-myoclonus, retinopathies, limbic encephalitis, chronic gastrointestinal pseudoobstruction, sensory neuronopathy, encephalomyelitis, dermatomyositis, Stiff-Person syndrome and melanoma-associated retinopathy.
  • Paraneoplastic cerebellar degeneration: Disorders of the cerebellum associated with tumors. The cerebellum is the part of the brain that controls coordination. It is believed that the body's immune system's attempt to destroy the tumor results in damage to the cerebellum. The main tumors associated with this condition include lung and breast cancer, Hodgkin's lymphoma and reproductive organ tumors.
  • Paraneoplastic limbic encephalitis: Limbic encephalitis is an inflammation of the limbic system which is the part of the brain responsible for basic autonomic functions. In the paraneoplastic type, the inflammation is caused by cancers such as small cell lung cancer.
  • Parkinson disease 9: A genetic form of Parkinson disease (a progressive degeneration of the central nervous system) that progresses rapidly once it starts. Dementia, spasticity and eye movement problems are also characteristic of this form of Parkinson disease.
  • Partial Trisomy 18 Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of only part of chromosome 18 in the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of the whole of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved and how much of the chromosome is involved.
  • Partial agenesis of corpus callosum: A rare birth defect where part of the corpus callosum is absent. The corpus callosum is the area that connects the two main halves of the brain (cerebral hemispheres). Severity of symptoms is determined by how much of the structure is missing. Mild cases tend to involve headaches, seizures and speech problems which don't appear for years.
  • Pasteurella multocida: An infectious disease caused by a bacterium called Pasteurella multocida. It is often transmitted through bites and scratches from pets and it can be found in mammals and fowl.
  • Pay-loo-ah-induced lead poisoning: Pay-loo-ah is a folk remedy used mainly by the Hmong people from Loas to treat fever and rash. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Penicillamine - Teratogenic Agent: There is evidence to indicate that exposure to Penicillamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Pepcid - Teratogenic Agent: There is evidence to indicate that exposure to Pepcid (used to treat and prevent ulcers) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Periodic hyperlysinemia: A rare genetic disorder where the body lacks enzymes to metabolize lysine which then causes a harmful builds up of lysine and ammonia in the body.
  • Permanent brain damage: The occurrence of brain damage in an individual that cannot be reversed
  • Pernicious anemia: A megaloblastic anaemia due to malabsorption of the vitamin B12
  • Pfeiffer Syndrome Type I: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity. Type I is the mildest of the three Pfeiffer Syndrome subtypes.
  • Pfeiffer syndrome Type 3: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include craniofacial abnormalities, cardiovascular malformations and early death is common.
  • Phenylketonuria: A metabolic disorder where there is a deficiency of the enzyme phenylalanine hydroxylase which leads to a harmful buildup of the phenylalanine in the body. Normally the phenylalanine is converted into tyrosine. The severity of the symptoms can range from severe enough to cause mental retardation to mild enough not to require treatment. Severity is determined by the level of impairment of enzyme activity of phenylalanine hydroxylase.
  • Phosphoserine aminotransferase deficiency: A recessively inherited enzyme (phosphoserine aminotransferase) deficiency which manifests as uncontrollable seizures, psychomotor retardation, small head and increased muscle tone. Treatment from birth can prevent early death and allow a relatively normal life.
  • Pili torti - developmental delay - neurological abnormalities: A very rare syndrome characterized mainly by developmental delay, twisted hair shafts and neurological symptoms.
  • Pineal Teratoma: A type of brain tumor that occurs mainly in the pineal region of the brain.
  • Pinealoma: A slow-growing type of brain tumor that occurs in the pineal gland. The pineal gland produces a hormone called melatonin which is involved in regulating sleep patterns.
  • Pineoblastoma, adult: A rare type of highly malignant brain tumor that usually occurs in children. The tumor develops in the pineal region of the brain.
  • Pituitary conditions: Any condition that affects the pituitary
  • Pituitary tumors, adult: A benign or cancer tumor that develops in the tissue of the pituitary gland in adults. The pituitary gland produces various hormones and some pituitary tumors (functioning tumors) can affect the secretion of one or more of these hormones resulting in a range of symptoms depending on the exact location of the tumor. Some pituitary tumors do not affect hormone production (nonfunctioning tumors).
  • Pneumococcus: Bacteria causing ear infections, pneumococcal pneumonia, and pneumococcal meningitis.
  • Po Ying Tan-induced lead poisoning: Po Ying Tan is a folk remedy used mainly by Chinese people to treat minor childhood complaints. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Podder-Tolmie syndrome: A rare syndrome characterized mainly by athtrogryposis, underdeveloped thumbs and meningoencephalocele.
  • Polio: Dangerous virus now rare due to vaccination.
  • Pollitt syndrome: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
  • Polycystic kidney disease: Genetic kidney disease causing kidney cysts.
  • Polycythemia vera: A condition which is characterized by myeloproliferation of unknown etiology
  • Pontocerebellar Hypoplasia Type 6: A rare inherited condition where the brainstem and part of the brain (cerebellum) is abnormally small.
  • Pontocerebellar hypoplasia type V: A rare inherited condition where the brainstem and part of the brain (cerebellum) is abnormally small.
  • Porencephaly: A central nervous system disorder involving cysts in the brain cortex caused by stroke, infection or genetic anomaly.
  • Porphyria: A group of disorders characterized by excess production of porphyrin or its precursors which affects the skin and/or nervous system.
  • Post-vaccinial encephalitis: Post-vaccinial encephalitis is a brain infection that occurs after a smallpox vaccination.
  • Poxviridae disease: A group of infectious diseases that cause puss filled skin eruptions. Chicken pox and small pox are examples.
  • Prednisone - Teratogenic Agent: There is evidence to indicate that exposure to Prednisone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Premature aging: Early appearance of the signs of aging before old age
  • Primary amoebic meningoencephalitis: Meningitis/encephalitis from amebic infections.
  • Primary angiitis of the central nervous system: Inflammation of blood vessels that affect the central nervous system (brain and spinal cord). There are three main types within this category: benign angiitis of the central nervous system (BACNS), granulomatous angiitis of the central nervous system (GACNS) and atypical primary angiitis of the central nervous system (atypical ACNS). Symptoms vary depending on which particular type is involved and which part of the central nervous system is involved.
  • Progeria: A rare fatal genetic disorder characterized by extremely premature aging.
  • Progeroid syndrome, neonatal: A rare congenital condition characterized by poor growth, aged facial appearance, and mental retardation. Death occurs usually by 6 years of age.
  • Progesterone - Teratogenic Agent: There is evidence to indicate that exposure to Progesterone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Progressive Rubella Panencephalitis: A very rare complication of rubella infection where neurological symptoms develop following a congenital rubella infection and very rarely with childhood rubella. It is believed that the condition is the result of persistent rubella virus infection.
  • Pseudo-torch syndrome: A rare genetic syndrome characterized by a small head, eye disease and brain abnormalities. The symptoms are often very similar to another disorder caused by certain infections during pregnancy.
  • Pseudoaminopterin syndrome: A very rare condtion characterized by mental and physical retardation, skull abnormalities and skeletal defects. The symptoms observed are similar to those caused by aminopterin which was once used to induce abortions but in the pseudo form there is no evidence of exposure to aminopterin.
  • Pseudophosphatasia: A rare condition where infants have all the physical features of infantile hypophosphatasia but alkaline phosphatase activity is normal.
  • Pseudotumor Cerebri: A condition involving increased intracranial pressure which can produce symptoms similar to a brain tumor.
  • Pseudoxanthoma elasticum, forme fruste: An inherited systemic disease of connective tissue involving progressive calcification and degeneration of elastic fibers throughout the body, including the skin, eyes and cardiovascular system.
  • Psittacosis: An infectious disease caused by Chlamydia psittaci and transmitted mainly by infected birds but also by some mammals.
  • Pulmonary Anthrax: Inhaled lung anthrax, most severe form of anthrax.
  • Pulmonary arterio-veinous aneurysm: A very rare disorder where there is an abnormal opening between a pulmonary artery and vein which can affect blood oxygenation.
  • Pyridoxamine 5-prime-phosphate oxidase deficiency: A metabolic disorder involving a deficiency of an enzyme called 5-prime-phosphate oxidase. Symptoms start soon after birth and involves seizures and other anomalies.
  • Questran - Teratogenic Agent: There is evidence to indicate that exposure to Questran (cholesterol-lowering drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Quinacrine - Teratogenic Agent: There is evidence to indicate that exposure to Quinacrine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Quinine - Teratogenic Agent: There is evidence to indicate that exposure to Quinine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Rabies: An infectious disease that can affect any mammal including humans and is transmitted through the saliva of an infected animal. The infectious agent is the Neurotropic lyssavirus which affects the salivary gland and also causes neurological symptoms.
  • Radiation induced meningioma: A type of brain tumor caused by exposure of the head region to radiation. Radiation is often used to treat a number of conditions, particularly cancer. The tumor can develop years or even decades after the exposure. Symptoms are determined by the exact location and size of the tumor.
  • Rasmussen's Encephalitis: Rare possibly-autoimmune brain condition.
  • Rat-bite fever: A disease caused by a rat bite where the patient becomes infected by a bacteria (causes skin ulceration and recurrent fever) or a fungus (causes skin inflammation, muscle pain and vomiting). Also called sodokosis.
  • Rattle snake poisoning: The Rattle snake is a poisonous snake found mainly in America. They are distinguished by a characteristic rattle at the tip of their tail.
  • Renal tubular transport disorders, inborn: Genetic defects in the transporters and channels along the kidney tubules that help to regulate body fluids as well as defects in the receptors and enzymes involved in the process. Examples of such disorders include nephrogenic diabetes insipidus and hereditary renal hypouricemia. Symptoms are determined by the exact nature of the disorder.
  • Renal-hepatic-pancreatic dysplasia - Dandy Walker cyst: A very rare syndrome involving abnormal development of the kidneys, liver and pancreas as well as a brain cyst called a Dandy-Walker cyst.
  • Retinoic Acid - Teratogenic Agent: There is evidence to indicate that exposure to Retinoic Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Reye's syndrome: is a potentially fatal disease that causes numerous detrimental effects to many organs, especially the brain and liver
  • Rh Disease: A disease that can occur when the mother's blood is not compatible with the fetal blood i.e. when an Rh-negative mother had a Rh-positive child. If the baby's blood is exposed to the mother's blood (through placenta, abortion, miscarriage, amniocentesis) the mother's body becomes sensitized and develops antibodies the Rh-positive blood. In future pregnancies, the mother's antibodies can attack the red blood cells of the unborn baby resulting in hemolytic disease. The severity of the disease is variable and can range from mild fetal anemia to severe anemia and even fetal death.
  • Rhabdoid tumor: An aggressive malignant tumor that occurs in children. Symptoms depend on the location of the tumor. The tumors often form in the kidneys and then tend to metastasize to the brain and sometimes the lungs.
  • Rheumatoid vasculitis: A rare disorder where sufferers of rheumatoid arthritis with joint inflammation develop inflammation of small and medium sized blood vessels. It tends to mostly affect the blood vessels in the skin. The symptoms are determined by which part of the body is affected.
  • Rhodococcus equi: A rare form of bacterial infection that usually affects horses and foals but can cause infection mainly in immunocompromised people. Infection usually starts at the site of some sort of trauma. Symptoms and severity may vary considerably depending on the location and extent of the infection.
  • Rhombencephalosynapsis: Abnormal development of the brain where the vermis of the cerebellum is partially or totally absent and the cerebellar hemispheres are joined together. The type and severity of symptoms depends on the severity of the abnormality - symptoms can range from mild ataxia to cerebral palsy and mental retardation. The condition is usually associated with various other abnormalities or syndromes.
  • Rifampin - Teratogenic Agent: There is evidence to indicate that exposure to Rifampin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Rift Valley Fever: Mosquito-borne viral infection affecting animals and humans
  • Rimbaud-Passouant-Vallat syndrome: A type of brain inflammation.
  • Rocio encephalitis: Inflammation of the brain caused by a flavivirus called Rocio virus. It occurs in south-eastern Brazil with transmission occurring through mosquito bites. The incubation period is 1-2 weeks. Death is not an uncommon outcome.
  • Rokitansky Van Bogaert syndrome: A rare disorder characterized by pigmentation abnormalities of the skin and brain which causes various neurological symptoms as well as skin nevi.
  • Rolland-Desbuquois syndrome: A condition characterized by dwarfism, hydrocephalus, facial abnormalities and a narrow chest. Survival is possible past infancy. The condition is a less severe form of Silverman-Handmaker syndrome which is lethal.
  • Rubella panencephalitis: A very rare complication of rubella infection where neurological symptoms develop following a congenital rubella infection and very rarely with childhood rubella. It is believed that the condition is the result of persistent rubella virus infection.
  • Rueda-induced lead poisoning: Rueda is a lead-containing folk remedy used mainly by Chinese people to treat infant colic or to calm young children. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • SCHAD deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • SCID: Major failure of the immune system, usually genetic.
  • SSADH deficiency (succinic semialdehyde dehydrogenase deficiency): A rare inherited metabolic disorder where an enzyme deficiency (succinic semialdehyde dehydrogenase) prevents the normal metabolism of gamma-aminobutyric acid.
  • Sabin-Feldman syndrome: A rare inherited disorder characterized by damage to brain tissue, chorioretinopathy (fluid build up under the retina) and mental retardation. The symptoms of this condition are similar to those of the parasitic infection called toxoplasmosis.
  • Saccharopinuria: A rare metabolic disorder involving an enzyme (saccharopine dehydrogenase) deficiency which results in a harmful buildup of saccharopine.
  • Sakati syndrome: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Santrinj-induced lead poisoning: Santrinj is a paint primer but is also used as a folk remedy mainly by Saudi Arabian people to treat teething and gum boils. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Saoot-induced lead poisoning: Saoot is a folk remedy used mainly by Middle Eastern people to treat digestive eye injuries, teething and to manage the umbilical stump in newborns. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Sarcoidosis: Rare autoimmune disease usually affecting the lungs.
  • Schizencephaly: A very rare disorder where the brain fails to develop normally and slits or clefts form in the brain. They type and severity of symptoms is determined by the degree of abnormality.
  • Schwartz newark syndrome: A rare syndrome characterized by pigmentation anomaly, hydrocephaly, spina bifida and a myelomeningocele.
  • Schwartz, Cohen-Addad, Lambert syndrome: A rare disorder characterized by increased pigmentation and a central nervous system malformation (myelomeningocele).
  • Sclerosteosis: A rare genetic disorder characterized by syndactyly and thickening and overgrowth of bone.
  • Sengers-Hamel-Otten syndrome: A very rare syndrome characterized mainly by obesity, buildup of fluid inside the skull (hydrocephalus) and impaired sex hormone production.
  • Seow-Najjar syndrome: A rare inherited disorder characterized by abnormal tooth enamel, cataracts and a brain abnormality. The brain abnormality involves a narrowed duct (aqueduct of Sylvius) which connects the third and fourth ventricle and allows brain and spinal fluid to pass through.
  • Serratia: An infectious disease caused by bacteria from the Serratia genus. The bacteria can cause urinary tract infection, pneumonia, respiratory tract infections, endocarditis, osteomyelitis, septicemia, eye infection, meningitis and wound infections. This type of bacterial infection shows some antibiotic resistance. Symptoms and severity depend on the location and extent of the infection.
  • Severe combined immunodeficiency, T- B+ due to JAK3 deficiency: A recessively inherited immunodeficiency disorder characterized by a lack of circulating T and Natural Killer Cells and a normal level of B cells. The disorder is caused by a defect on the JAK3 gene. Infants may display symptoms such as pancytopenia, skin rash and abnormal liver function due to a graft-versus-host reaction to the mother's T cells via the placenta. If the condition is not treated, death occurs.
  • Shaken Baby Syndrome: A condition caused by violent shaking of a baby.
  • Shingles: Infectious viral infection occuring years after chickenpox infection.
  • Sickle cell anemia: Sickle cell anemia is an inherited blood disorder characterized by red blood cells which are crescent-shaped rather than the normal doughnut shape. These abnormally shaped red blood cells are unable to function normally and tend to undergo premature destruction which leads to anemia. If the genetic defect which causes the condition is inherited from both parents the condition can be quite severe whereas if it is inherited from only one parent, often there are no symptoms. The abnormally shaped red blood cells can cause problems when they clump together and block blood vessels.
  • Silverman-Handmaker syndrome: A condition characterized by dwarfism, hydrocephalus, facial abnormalities and a narrow chest. The condition results in death during or soon after birth and is a more severe form of Rolland-Debuquois syndrome.
  • Simian B virus infection: A type of herpesvirus which occurs in monkeys but can be transmitted to humans through bites or through contact with infected monkey tissue as in a laboratory situation. The virus infects the brain (encephalitis) and the surrounding membrane (meningitis).
  • Sinusitis: Inflammation of the sinus passages (as a symptom)
  • Sjogren's Syndrome: Autoimmune disease damaging the eye tear ducts and other glands.
  • Sjogren-Larsson syndrome: A rare inherited neurological and skin disorder characterized by mental retardation, spastic paraplegia and thickened scaly skin (ichthyosis). The condition involves a deficiency of fatty alcohol oxidoreductase which causes an accumulation of long-chain fatty alcohols.
  • Sjögren syndrome, secondary: An autoimmune disease where the body's immune system attacks parts of the body that produce moisture such as the eyes, mouth and gastrointestinal tract. Sjögren syndrome can occur on its own (primary) or with another connective tissue disease (secondary) such as rheumatoid arthritis, systemic lupus, systemic sclerosis and polymyositis/dermatomyositis. The condition can be mild or severe.
  • Sjögren-Larsson syndrome: A rare inherited neurological and skin disorder characterized by mental retardation, spastic paraplegia and thickened scaly skin (ichthyosis). The condition involves a deficiency of fatty alcohol oxidoreductase which causes an accumulation of long-chain fatty alcohols.
  • Skeletal dysplasia - mental retardation: A rare recessively inherited disorder characterized mainly by mental retardation, a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
  • Sleep apnea: A condition which is characterized by transient attacks of apnea that usually occur during ones sleep
  • Smith disease: A harmless condition involving increased lymphocyte levels which may manifest as a variety of symptoms or may be asymptomatic. Diseases such as whooping cough and German measles are believed to be possible causes. The disease most commonly occurs in children and young adults.
  • Smith-Lemli-Opitz syndrome, type 2: A rare birth disorder where an enzyme deficiency (7-dehydrocholesterol reductase) prevents cholesterol being metabolized properly. The condition causes a variety of physical abnormalities. Type II is a more severe form of the condition.
  • Sneddon Syndrome: A rare progressive inherited disorder involving the blood vessel disease and neurological symptoms.
  • Solvent abuse: Solvent abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Solvents include nail polish removers, paint thinners, gasoline, typing correction fluid and toxic markers. These solvents can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
  • Solvent addiction: Solvent addiction refers to the compulsive need to abuse solvents (e.g. sniffing them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Solvents are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Solvents includes paint thinner, toxic markers, gasoline, cigarette lighter fluid, typing correction fluid and nail polish removers.
  • Somatization Disorder: A disorder that is characterised by multiple somatic complaints
  • Somatoform Disorders: A disorder that is characterised by multiple somatic complaints
  • Spastic paraplegia 30, autosomal recessive: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
  • Spastic paraplegia 32, autosomal recessive: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
  • Spastic paraplegia 7, autosomal recessive: A rare syndrome characterized mainly by progressive stiffness and increased reflexes in the leg muscles.
  • Spina bifida: A congenital condition which is characterized by the abnormal closure of the vertebral arch
  • Spinocerebellar Ataxia: A condition characterised by a failure of muscle coordination due to pathology arising in the spinocerebellar tract of the spinal cord
  • Spinocerebellar ataxia - dysmorphism: A rare inherited syndrome characterized by ataxia and unusual facial appearance.
  • Spinocerebellar ataxia 5: A genetic disorder involving progressive degeneration of the spinal cord resulting in symptoms such as incoordination and eye movement problems.
  • Spinocerebellar ataxia with axonal neuropathy, type 2: A neurological disorder characterized by progressive ataxia, tremor and muscle weakness and wasting. The rate of progression and severity is variable with some needing wheelchairs in their second decade and others still capable of some walking in their 4th decade.
  • Spinocerebellar ataxia, autosomal recessive 2: A rare, recessively inherited brain disorder characterized by ataxia and mental retardation. The severity of the disorder is variable and the condition is nonprogressive.
  • Spinocerebellar ataxia, autosomal recessive 7: A rare, recessively inherited neurological disorder caused by abnormalities in the cerebellum and spinal cord. The severity of the disorder is variable.
  • Spinocerebellar ataxia, autosomal recessive 9: A rare, recessively inherited neurological disorder caused by abnormalities in the cerebellum and spinal cord. This particular form of the condition is caused by a defect in the CABC1 gene on chromosome 1q42.2.
  • Spirochetes disease: Infection with a type of bacteria which is often found in mud, sewage and polluted water. Symptoms are determined by the species involved. Diseases caused by this bacteria include Treponema infection and borreliosis.
  • Spondylocostal dysostosis, Dandy-Walker: A rare syndrome characterized mainly by rib and spine abnormalities as well as the Dandy-Walker anomaly (brain cyst).
  • Spondyloepiphyseal dysplasia - nephrotic syndrome: A very rare syndrome characterized by skeletal and immunity abnormalities. The immune defect leads to progressive kidney dysfunction which can ultimately cause death during the first decade.
  • Sporotrichosis: A fungal skin infection caused by the fungus Sporothrix schenckii. Usually only the skin is infected but bones, lungs and central nervous system can rarely be affected also. Transmission usually occurs through infection of a skin wound.
  • Spranger-Schinzel-Myers syndrome: A very rare syndrome characterized by brain malformation, underdeveloped fingers and bone abnormalities. It is believed to be possibly caused by exposure to ergotamine and diazoxide which may be teratogenic.
  • St. Louis encephalitis: Mosquito-borne type of brain infection (encephalitis)
  • Streptococcal Group B invasive disease: Infection with bacteria called Group B Streptococcus which can cause severe symptoms or even death. The bacteria occur in the stomach and the urogenital tract of females and are normally harmless and cause no symptoms. However, it can cause a range of diseases in newborns, the elderly and people with poor immune systems.
  • Streptococcal Infections: Various "strep" bacterial infections.
  • Stroke symptoms: Brain-related symptoms of bleeding or blockage.
  • Sturge-Weber Syndrome: A rare genetic disorder characterized by excessive blood vessel growth, calcium accumulation inside the brain and seizures.
  • Stuve-Wiedemann dysplasia: A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers.
  • Stuve-Wiedemann syndrome: A rare syndrome characterized mainly by short stature, bowed long bones and permanent flexion of fingers.
  • Subarachnoid hemorrhage: subarachnoid hemorrhage is bleeding in the area between the brain and the thin tissues that cover the brain. This area is called the subarachnoid space
  • Subdural hematoma: A condition which is characterized by a blood clot beneath the dura mater
  • Sucralfate - Teratogenic Agent: There is evidence to indicate that exposure to Sucralfate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Sugarman syndrome: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger, teeth and eye abnormalities.
  • Sulfasalazine - Teratogenic Agent: There is evidence to indicate that exposure to Sulfasalazine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Sulfatidosis juvenile, Austin type: A very rare metabolic disorder where all the sulfatase enzymes are impaired resulting in a variety of physical and developmental abnormalities.
  • Surma-induced lead poisoning: Surma is a black powder used as a cosmetic as well as a folk remedy by Middle East people to treat teething. This folk remedy has the potential to cause lead poisoning due to its relatively high content of lead. Children are more susceptible to the effects of lead. The use of folk remedies is still prevalent in some cultures. Lead poisoning can result in serious illness and even death in severe cases.
  • Syncope: Loss or interruption of consciousness.
  • Syphilis: A sexually transmitted disease caused by a bacteria (Treponema pallidum). The condition is often asymptomatic in the early stages but one or more sores may be present in the early stages. Untreated syphilis usually results in remission of visible symptoms but further severe damage may occur to internal organs and other body tissues which can result in death.
  • Systemic candidiasis: A candida infection that spreads throughout the body. If it invades major organs such as the brain and heart, death may result. It is rare in healthy individuals and tends to occur in immunocompromised individuals. The disorder is difficult to diagnose as it can invade almost any organ of the body and hence the symptoms are hugely variable.
  • Systemic monochloroacetate poisoning: Monochloracetate acid is a dangerous chemical which can cause systemic poisoning even if only skin exposure occurs. Exposure to the chemical can be life-threatening with serious symptoms starting within hours of the exposure.
  • TIA: Transient ischemic accident
  • TORCH Syndrome: Infection of a fetus by any of a group of infectious agents which have been transmitted from the mother through the placenta. The infections include toxoplasmosis, rubella, cytomegalovirus, herpes virus, hepatitis and syphilis. The severity and nature of symptoms is determined by the type of infection.
  • Tegison - Teratogenic Agent: There is evidence to indicate that exposure to Tegison (a drug used to treat psoriasis) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Tetra-Amelia, Autosomal Recessive: A recessively inherited malformation syndrome characterized by absence of all four limbs. Various other malformations were also present.
  • Tetrahydrobiopterin deficiencies: A rare genetic disorder where insufficient levels of tetrahydropterin leads to a build up of phenylalanine in the blood which can cause toxic side effects such as nerve damage or even brain damage. The condition does not usually cause any significant symptoms.
  • Thanatophoric dysplasia, type 1: A rare lethal genetic disorder characterized by severe skeletal abnormalities, flat vertebrae, large head and low nasal bridge.
  • Thanatophoric dysplasia, type 2: A rare lethal genetic disorder characterized by severe skeletal abnormalities, flat vertebrae, large head and low nasal bridge.
  • The clap: A sexually transmitted infection by the bacteria Neisseria gonorrhoeae.
  • Thrombocythemia: A haematological disorder in which there is excessive proliferation of platelet precursor cells, resulting in increased numbers of platelets in the blood.
  • Thromboembolism: Lodgement of a blood clot causing blockage
  • Thrombosis: Blood clot occurring in a blood vessel
  • Thyroid disease: Any medical condition which affects the thyroid
  • Tibia absent - polydactyly - arachnoid cyst: A very rare syndrome characterized mainly by extra fingers, an absent shinbone and a brain cyst.
  • Tibial aplasia - ectrodactyly - hydrocephalus: A rare syndrome characterized mainly by a build up of fluid inside the skull (hydrocephaly), shin bone abnormalities and a split hand deformity.
  • Tick-borne encephalitis: A viral infection (flavivirdae) of the central nervous system which is transmitted by ticks. Ticks usually feed on small rodents who are the main carriers of the virus. Transmission may also occur through the consumption of untreated milk. The incubation period is usually 1 to 2 weeks. The symptoms occur in two phases: the first involves symptoms of a general viral illness (fever, headache, nausea, aching muscles) followed by a period of remission and then central nervous system inflammation such as meningitis. However, many patients only suffer the first phase of the disease.
  • Togaviridae disease: Infection with any of a number of togaviridae viruses which can caused conditions such as Equine encephalitis, Ross River virus and Rubella virus. Symptoms are determined by the type of virus involved. Togaviridae are arboviruses and are transmitted by arthropods.
  • Torulopsis: A type of yeast infection caused by Torulopsis glabrata. The fungus is often found in normal healthy skin, respiratory system, genitourinary system and gastrointestinal system and it generally only becomes a problem in weakened or immunocompromised people. They type of symptoms are determined by where and how severe the infection is.
  • Toxic mushrooms - cyclopeptides: Some mushrooms contain a toxic chemical called cyclopeptide which can cause primarily gastrointestinal symptoms if ingested. Most cases of mushroom poisoning in North America involve cyclopeptide-containing mushrooms. Mushroom species from this group include certain species of Amanita (bisporigera, ocreata, phalloides, suballiacea, tenufolia, verna, virosa), Galerina and Lepiota. One Amanita mushroom cap may result in death in an adult. Poisoning occurs in three phases: gastrointestinal symptoms (within 24 hours of ingestion); remission (up to 72 hours after ingestion); and liver and kidney symptoms (3 to 6 days after ingestion). Poisoning symptoms are more severe in children due to their smaller body size.
  • Toxoplasmosis: Infection often caught from cats and their feces.
  • Toxoplasmosis - Teratogenic Agent: There is strong evidence to indicate that the development of Toxoplasmosis during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
  • Transient ischemic attack: temporary disturbance of blood supply to a restricted area of the brain, resulting in brief neurologic dysfunction that persists, by definition, for less than 24 hours.
  • Transthyretin amyloidosis: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage. In the transthyretin form, the amyloid protein consists of transthretin. The condition is characterized by slo-progressing peripheral sensorimotor and autonomic neuropathy, kidney disease and heart disease. Abnormal amyloid deposits may also occur in the eyes and central nervous system. There are a number of subtypes of the disorder: familial oculoleptomeningeal amyloidosis, familial amyloid polyneuropathy and familial amyloid cardiomypathy as well as others. Neuropathic symptoms tend to start in the legs. Symptoms may vary depending on which parts of the body are affected.
  • Traumatic Brain Injury: Brain injury from trauma or accident.
  • Tretinoin - Teratogenic Agent: There is evidence to indicate that exposure to Tretinoin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Triazolam - Teratogenic Agent: There is evidence to indicate that exposure to Triazolam during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Trichinosis: Worm infection usually caught from pigs
  • Trichorrhexis nodosa syndrome: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
  • Trichothiodystrophy, type C: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
  • Trichothiodystrophy-neurocutaneous Syndrome: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
  • Trichothiodystrophy-neurotrichocutaneous Syndrome of Pollitt: A rare condition characterized by brittle hair, mental and growth retardation as well as various other abnormalities. The hair is brittle because due to the reduced amount of sulfur in it and the formation of weak spots (nodes) along it which results in it breaking off easily.
  • Triploid syndrome: A complete extra set of chromosomes.
  • Trisomy 18 Syndrome: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18. Most fetuses are aborted before term, but a live birth with this condition occurs with a frequency around 1-in-3000. Edwards syndrome is more severe than the more common Down syndrome. Edwards syndrome causes mental retardation and numerous physical defects that often cause an early infant death. The condition has variable severity depending on how many of the body's cells have the extra chromosome and how much of the extra chromosome is duplicated. In severe forms all cells have an extra copy of the complete chromosome 18 whereas milder forms may have only some cells having the extra chromosome. Other mild forms may have an extra copy of only part of chromosome 18 in some or all of the body cells.
  • Trisomy 18 mosaicism: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18 in only some of the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved.
  • Trisomy 6: A rare chromosomal disorder involving the duplication of chromosome 6 which results in variable symptoms including mental retardation, retarded growth, facial anomalies and various other abnormalities. Full Trisomy 6 is results in spontaneous abortion whereas various degrees of Trisomy 6q can result in syndromes of variable severity depending on the size of the duplication.
  • Trypanosomiasis, east-African: A rare infectious disease caused by a parasite called Trypanosoma brucei rhodesiense and is transmitted through the bite of an infected Tsetse fly. The infection causes an acute illness with symptoms occurring from days to weeks after infection. Death relatively common, especially in untreated cases.
  • Tsao-Ellingson syndrome: A very rare syndrome characterized mainly by spasms during infancy and broad thumbs.
  • Tuberculosis: Bacterial infection causing nodules forming, most commonly in the lung.
  • Tuberous sclerosis: A rare genetic disorder characterized by harmartomatous skin nodules, seizures, phakomata and bone lesions.
  • Tuberous sclerosis, type 1: A rare genetic disorder with a variety of abnormalities such as seizures, mental retardation, skin lesions and nodules in various body tissues and organs.
  • Turcot syndrome: A rare inherited disorder characterized by benign growths on the inside of the gastrointestinal tract and central nervous system tumors.
  • Type 10 17b-hydroxysteroid dehydrogenase deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
  • Type I Hyperlipoproteinemia: Type I Hyperlipoproteinemia is a rare inherited condition characterized by high levels of chylomicrons (a type of lipoprotein) in the blood. This condition is the result of low levels of lipoprotein lipase which is responsible for lowering lipoprotein levels. Cholesterol levels are usually normal and the risk of heart disease is low.
  • Type II Hyperlipoproteinemia: Type II Hyperlipoproteinemia is a condition characterized by high levels of beta-lipoproteins in the blood. The high cholesterol results from abnormally high levels of low density lipoproteins in the blood due to a deficiency of LDL receptors. There are two subtypes of this condition: type IIa and type IIb. Lipoproteins are responsible for transporting cholesterol in the bloodstream and high levels of them in the bloodstream means that there are high levels of cholesterol in the bloodstream.
  • Type III Hyperlipoproteinemia: Type III hyperlipoproteinemia is a rare genetic condition characterized by increased blood levels of intermediate density lipoproteins (IDL) which in turn causes high cholesterol levels. The high IDL levels are caused by an abnormality in apolipoprotein E. Apolipoprotein E is a protein found on IDLs which allows the IDLs to bind to liver cells. Without this binding process, the level of IDLs in the blood increase. Lipoproteins are responsible for transporting cholesterol in the bloodstream and high levels of them in the bloodstream means that there are high levels of cholesterol in the bloodstream.
  • Type IIa Hyperlipoproteinemia: Familial Hyperlipoproteinemia is a rare genetic condition characterized by high levels of low density lipoproteins in the blood. A deficiency of LDL receptors leads to an increased level of low density lipoproteins (LDLs) which in turn causes high cholesterol levels. Lipoproteins are responsible for transporting cholesterol in the bloodstream and high levels of them in the bloodstream means that there are high levels of cholesterol in the bloodstream.
  • Type IIb Hyperlipoproteinemia: Type IIb Hyperlipoproteinemia is a condition characterized by increased blood levels of low density lipoproteins (LDL) and apoprotein B (ApoB). This in turn causes high cholesterol levels. Lipoproteins are responsible for transporting cholesterol in the bloodstream and high levels of them in the bloodstream means that there are high levels of cholesterol in the bloodstream.
  • Type IV Hyperlipoproteinemia: Type IV Hyperlipoproteinemia is an inherited condition characterized by high levels of very low density lipoproteins (VLDL) in the blood which in turn causes high cholesterol levels. Lipoproteins are responsible for transporting cholesterol in the bloodstream and high levels of them in the bloodstream means that there are high levels of cholesterol in the bloodstream. The high VLDL levels are a result of increased production and reduced elimination of the VLDLs. Environmental factors are the driving force behind this condition.
  • Type Ia Hyperlipoproteinemia: Type Ia Hyperlipoproteinemia is a rare inherited condition characterized by high levels of chylomicrons (a type of lipoprotein) in the blood. This condition is the result of low levels of lipoprotein lipase which is responsible for lowering lipoprotein levels. Cholesterol levels are usually normal and the risk of heart disease is low.
  • Type Ib Hyperlipoproteinemia: Type Ib Hyperlipoproteinemia is a rare inherited condition characterized by high levels of chylomicrons (a type of lipoprotein) in the blood. This condition is the result of low levels of apolipoprotein C-II which is responsible for lowering lipoprotein levels. Cholesterol levels are usually normal and the risk of heart disease is low.
  • Type Ic Hyperlipoproteinemia: Type Ic Hyperlipoproteinemia is a rare inherited condition characterized by high levels of chylomicrons (a type of lipoprotein) in the blood. This condition is the result of inhibited lipoprotein lipase activity. Lipoprotein lipase is responsible for lowering lipoprotein levels. Cholesterol levels are usually normal and the risk of heart disease is low.
  • Type V Hyperlipoproteinemia: Type V Hyperlipoproteinemia is a rare condition characterized by increased synthesis of very low density lipoproteins (VLDL) and reduced levels of lipoprotein lipase (an enzyme). Lipoproteins are responsible for transporting cholesterol in the bloodstream and high levels of them in the bloodstream means that there are high levels of cholesterol in the bloodstream.
  • Typhoid fever: Fever from bacterial food poisoning.
  • Undifferentiated Somatoform disorder: A disorder which is characterised by one or more physical complaints that are not intentionally produced or feigned
  • VACTERL association with hydrocephaly, X-linked: This condition is characterised by the occurrence of hydrocephalus with VACTERYL syndrome.
  • VACTERL hydrocephaly: A rare syndrome characterized by the VACTERL abnormalities (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects) as well as a buildup of fluid inside the skull (hydrocephalus).
  • VACTERL with hydrocephalus, X-linked: A rare X-linked syndrome characterized by the VACTERL abnormalities (vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, limb defects) as well as a buildup of fluid inside the skull (hydrocephalus).
  • VACTERYL hydrocephaly: This condition is characterised by the occurrence of hydrocephalus with VACTERYL syndrome.
  • Vaccinia: A cowpox virus that was initially used for human smallpox vaccines.
  • Valproic Acid - Teratogenic Agent: There is evidence to indicate that exposure to Valproic Acid during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Van Regemorter Pierquin Vamos syndrome: A syndrome which is characterised by multiple congenital abnormalities
  • Varadi Papp syndrome: A syndrome characterised by deformities of the oral-facial-digital areas
  • Variant CJD: New human CJD subtype linked to mad cow disease (BSE).
  • Variant Creutzfeldt-Jakob disease: The bovine spongiform encephalopathy affects cattle but the variant form can infect humans. Human infection can occur by consuming infected cattle products, especially the brain and other central nervous system tissues.
  • Vascular malformations of the brain: Conditions affecting the brain blood vessels. The type and severity of symptoms is determined by the type, location and extent of the malformation. There are six types of vascular malformations of the brain: telangiectasis, venous malformations, cavernous malformations, arteriovenous malformations, vein of Galen malformation and mixed malformations.
  • Vasotec - Teratogenic Agent: There is evidence to indicate that exposure to Vasotec (an ACE inhibitor) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Vein of Galen aneurysm: A rare condition which is characterised by an aneurysm resulting from a intracranial vascular malformation
  • Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.
  • Vertebral Artery Dissection: A tear that develops in the verebral artery and tends to result in a stroke. It is the most common cause of stroke in young people. Vertebral artery dissections can be caused by trauma to the neck, manipulation of the spine (chiropractics), high blood pressure or even blowing the nose in some cases.
  • Very Long Chain Acyl CoA Dehydrogenase Deficiency - Early onset: Very Long Chain Acyl CoA Dehydrogenase Deficiency is a rare inherited genetic condition where the body is unable to convert certain fats to energy i.e. there is not enough of a certain enzyme which is needed to metabolize a type of fat called long-chain fatty acids. The build-up of these fatty acids in the body causes damage. There are three subtypes of the disorder each with varying severity: severe early-onset form, an intermediate form and an adult-onset form. The early-onset form is the most severe and can readily lead to death if undiagnosed.
  • Very Long Chain Acyl CoA Dehydrogenase Deficiency - adult-onset: Very Long Chain Acyl CoA Dehydrogenase Deficiency is a rare inherited genetic condition where the body is unable to convert certain fats to energy i.e. there is not enough of a certain enzyme which is needed to metabolize a type of fat called long-chain fatty acids. The build-up of these fatty acids in the body causes damage. There are three subtypes of the disorder each with varying severity: severe early-onset form, an intermediate form and an adult-onset form. The adult-onset form is relatively mild and tends to be characterized mainly by muscle problems.
  • Very Long Chain Acyl CoA Dehydrogenase Deficiency - intermediate: Very Long Chain Acyl CoA Dehydrogenase Deficiency is a rare inherited genetic condition where the body is unable to convert certain fats to energy i.e. there is not enough of a certain enzyme which is needed to metabolize a type of fat called long-chain fatty acids. The build-up of these fatty acids in the body causes damage. There are three subtypes of the disorder each with varying severity: severe early-onset form, an intermediate form and an adult-onset form. The intermediate form is relatively mild and tends to be characterized by periods of low blood sugar - symptoms tend to develop during childhood.
  • Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: A rare inherited genetic condition where the body is unable to convert certain fats to energy i.e. there is not enough of a certain enzyme which is needed to metabolize a type of fat called long-chain fatty acids. The build-up of these fatty acids in the body causes damage. There are three subtypes of the disorder each with varying severity: severe early-onset form, an intermediate form and an adult-onset form.
  • Vibrio infection - Vibrio cincinnatiensis: An infectious disease caused by a bacteria called Vibrio cincinnatiensis. The nature and severity of symptoms can vary considerably depending on the type of infection caused - gastroenteritis, wound infection or septicemia. This particular infection however tends to cause mainly meningitis. The elderly and very young tend to suffer more severe symptoms.
  • Vitamin B12 Deficiency: A deficiency of Vitamin B12 primarily causes anemias the body is unable to make sufficient quantities of normal red blood cells. Severe cases can lead to permanent nervous system problems. The vitamin B12 deficiency can result from absorption problems, insufficient dietary intake, certain medications (e.g. metformin), inherited conditions (e.g. transcobalamin deficiency) and certain chronic parasitic intestinal infestations.
  • Vogt-Koyanagi-Harada Syndrome: A rare condition characterized by poliosis and hair, skin, eye and ear abnormalities as well as retinal detachment and neurological involvement.
  • Vomiting: Vomiting or retching symptoms.
  • Von Hippel-Lindau Disease: Genetic disease causing multiple benign tumors
  • Waaler Aarskog syndrome: A rare syndrome characterized mainly by hydrocephaly and upwardly displaced shoulder blade (Sprengel anomaly).
  • Waldenström Macroglobulinemia: A rare disorder involving malignancy of the lymph and blood cells.
  • Walker-Warburg Syndrome: A rare inherited disorder characterized by brain malformations and retinal and muscle abnormalities.
  • Warfarin - Teratogenic Agent: There is evidence to indicate that exposure to Warfarin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Warfarin syndrome: Various physical and other abnormalities that can result from the use of the drug Warfarin during the first trimester of pregnancy.
  • Weaver Johnson syndrome: A syndrome that is characterised by craniosynostosis and cleft lip
  • Wegener's granulomatosis: A rare disease involving blood vessel inflammation which can affect the blood flow to various tissues and organs and hence cause damage. The respiratory system and the kidneys are the main systems affected.
  • Weil's syndrome: Severe form of Leptospirosis
  • Werner syndrome: A form of premature aging where sufferers start aging during adolescence or soon after and appear old by the time they reach their 30's or 40's. Milder forms of the condition may also occur.
  • Wernicke-Korsakoff syndrome: A rare degenerative brain disorder caused by thiamine (Vitamin B1) deficiency. Chronic alcoholics are prone to this condition.
  • West African Trypanosomiasis: West African sleeping sickness from the tsetse fly
  • West Nile fever: Mosquito-borne infectious virus.
  • Western equine encephalitis: An infectious disease caused by an arbovirus (Alphavirus - Togaviraidae) and transmitted by infected mosquitoes. The infection primarily attacks that central nervous system and severity can range from asymptomatic to severe complications and even death in rare cases.
  • Westphal disease: A condition that is closely associated with Huntington's disease and is a clinical variant of it
  • Whelan syndrome: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps, finger abnormalities and hydronephrosis.
  • Whipple's Disease: Rare malabsorption disease from bacterial digestive infection
  • Whistling face syndrome, recessive form: A rare, recessively inherited syndrome characterized mainly by a characteristic "whistling" face and hand anomalies. The range of symptoms are variable.
  • White matter hypoplasia corpus callosum agenesia mental retardation: A rare disorder characterized by abnormal brain development and mental retardation.
  • Whooping Cough: An infectious condition caused by the bacteria Bordetella pertussis
  • Wilson's disease: Wilson disease, or hepatolenticular degeneration, is a neurodegenerative disease of copper metabolism.
  • Wolfram Syndrome 2: Wolfram Syndrome is a condition characterized by the association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Type 2 is the result of a genetic defect and is similar to type 1 but there is no diabetes insipidus and patients tend to develop gastrointestinal problems.
  • Wolfram's disease: A condition that is inherited and consists of multiple symptoms
  • Wyburn Mason's syndrome: A rare genetic condition mainly involving enlarged brain blood vessels and skin and eye abnormalities.
  • X-linked hydrocephalus spectrum: A rare genetic disorder characterized by hydrocephalus, short flexed thumbs and mental deficiency.
  • Zarontin - Teratogenic Agent: There is evidence to indicate that exposure to Zarontin (antiseizure medication) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Zellweger Syndrome: Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum or continuum of disease. Zellweger syndrome is the most severe form; neonatal adrenoleukodystrophy is the intermediate form; and infantile Refsum disease is the mildest form.

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