Glossary for Neck symptoms

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

• $11q Partial Trisomy$: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
• $1q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $2q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $3q deletion$: A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• $49,XXXXX syndrome$: A rare chromosomal disorder that affects only females and involves body cells having five copies of the X chromosome instead of the normal two.
• $49,XXXXY syndrome$: A rare sex chromosome abnormality where there are three extra copies of the X chromosome.
• $8p-Syndrome, partial$: A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
• ACPS III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Aarskog Syndrome: A rare genetic condition characterized by facial, hand, genital and growth abnormalities.
• Abscess: This is an area of puss collected in a cavity which is constituted by necrotised tissue
• Acanthamoeba infection: Infection with a microscopic, free-living ameba that is readily found in the environment - soil, air and water. Most people exposed to the ameba will not become infected but when infections do occur, they tend to affect the eyes, central nervous system or can cause widespread infection throughout the body.
• Acanthamoeba infection of the central nervous system: Infection by an amoebic organism called Acanthamoeba. Infection usually occurs when the amoeba enters through a break in the skin or through the nose. Infection can be localized or systemic where it can involve the central nervous system and cause potentially fatal meningoencephalitis. Infection of the eye can occur by cleaning contact lenses in contaminated water.
• Achondrogenesis type 1A: A rare genetic disorder characterized by abnormal cartilage formation and growth of bones. Type 1A differs from other types by the origin of the genetic defect. Type 1A involves abnormal cartilage-forming cells (chondrocytes) whereas type 1B involves an abnormal cartilage matrix. Type 1B is the most severe disorder.
• Achondrogenesis type 2: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
• Achondrogenesis, Langer-Saldino Type: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
• Acrocephalopolydactyly - Cardiac Disease - Ear, Skin and Lower Limb Defects: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Acrocephalopolysyndactyly type III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Acrofacial dysostosis Catania form: One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare.
• Acrofacial dysostosis Preis type: One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable.
• Acrofacial dysostosis Rodriguez type: One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
• Acrofacial dysostosis, Palagonia type: One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild.
• Acute 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. Death is common in the acute phase of the infection which can last from four days to four months.
• 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 VE: 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. Death is common in the acute phase of the infection which can last from four days to four months.
• Acute Viliuisk 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. Death is common in the acute phase of the infection which can last from four days to four months.
• Acute 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. Death is common in the acute phase of the infection which can last from four days to four months.
• Acute 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. Death is common in the acute phase of the infection which can last from four days to four months.
• Acute Vilyuisk 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. Death is common in the acute phase of the infection which can last from four days to four months.
• Acute headache: Headache, or cephalgia, is defined as diffuse pain in various parts of the head, with the pain not confined to the area of distribution of a nerve.
• Acute idiopathic polyneuritis: An inflammatory disorder of the peripheral nerves The condition is characterized by weakness, numbness or tingling in the legs or arms or occasionally loss of movement and feeling in the legs, arms, upper body and face. Some patients have minor symptoms and others suffer severe symptoms such as paralysis. Also called Guillain-Barre syndrome, infectious polyneuritis or acute febrile polyneuritis.
• Adenocarcinoma, Follicular: A type of cancer of the thyroid gland.
• Aggressive fibromatosis - parapharyngeal space: A type of tumor that occur near in the space around the pharynx and is locally invasive but not malignant. They tend to occur mainly in the head and neck region and symptoms depend on the exact location and aggressiveness of the tumor. Tumors often reoccur after surgical removal which then requires further treatment with radiation and chemotherapy.
• Al Gazali Aziz Salem syndrome: A rare syndrome characterized mainly by heart disease, short stature and a webbed neck.
• Albright's hereditary osteodystrophy: A rare genetic disorder where the body fails to recognize and respond to the parathyroid hormone. The parathyroid hormone is involved in controlling the blood levels of calcium and phosphate.
• Anaplastic large cell lymphoma: A rare type of cancer where a tumor develops in lymph tissue and usually consists of white blood cells and null cells. It is a form of non-Hodgkin's lymphoma. The tumors can develop in more than one lymph node and can also occur in the skin and various organs such as the liver, bones or lungs.
• Anaplastic small cell lymphoma: A rare type of cancer where a tumor develops in lymph tissue and consists mainly of small cells. It is a form of non-Hodgkin's lymphoma. The tumors can develop in more than one lymph node and can also occur in the skin and various organs such as the liver, bones or lungs.
• Anemia, Blackfan Diamond: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
• 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.
• Aneurysmal subarachnoid haemorrhage: Bleeding in the space around the brain that occurs from a leak in a weakened or dilated blood vessel under the arachnoid layer of the brain. Death can occur if treatment is not prompt.
• Angina: Angina is a particular type of pain related to heart conditions
• Angiostrongyliasis: Infection by a parasitic worm (Angiostrongylus). Infection can occur through eating contaminated raw animals such as snails, slugs, prawns or crabs which act as hosts to these parasites.
• Ankylosing Spondylitis: A form of chronic inflammation of the spine which may also affect joints in the shoulder, hip, neck, ribs and jaw. May result in loss of mobility. Also called Marie-Strumpell disease.
• Anoxia: A condition marked by a lack of oxygen.
• Antithyroid drugs - Teratogenic Agent: There is strong evidence to indicate that the use of Antithyroid drugs 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.
• Aortic Aneurysm, Thoracic: Bulging and weakness of the aorta in the area of the chest. The condition is life-threatening as death can occur rapidly if the aneurysm bursts.
• 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.
• Arnold-Chiari Malformation (Type 1): A rare malformation where the base of the brain enters into the upper spinal canal.
• Arthrogryposis distal type II: A very rare syndrome characterized by permanent flexion of the fingers as well as other birth defects.
• Arthrogryposis multiplex congenita - pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Arthrogryposis multiplex congenita type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
• Arthrogryposis multiplex congenita, distal, X-linked: A rare condition characterized by the presence of contractures at birth as well as various other anomalies. The condition is X-linked.
• Arthrogryposis, distal, type 2A: A form of distal arthrogryposis (joint contractures in ends of limbs) that involves additional symptoms such as facial and spinal anomalies.
• Arthrogryposis, distal, type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
• Ascher syndrome: A rare syndrome characterized by the association of droopy eyelids, double lip and goiter.
• Ataxia - diabetes - goiter - gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Atlanto-Axial Fusion: A congenital anomaly where the first neck vertebrae is fused to the skull.
• Austrian syndrome: A condition where alcoholism is associated with heart failure and pneumococcal meningitis.
• Autoimmune Myelopathy: A disturbance functionally or pathological change in the spinal cord
• Baby rattle pelvic dysplasia: A lethal bone development disorder.
• Back tumour: The presence of tumour growth in the vertebra, whether due to primary malignancies e.g. leukaemic or myeloma infiltration of the bone marrow, or due to secondary metastases from another site e.g. lung or breast.
• Bacterial meningitis: Bacterial meningitis is a form of meningitis caused by bacteria that normally lives in the mouth and throat. When the immune system is unable to supress this bacteria, it travels to the cerebrospinal spinal fluid in the brain. From there it affects the membranes surrounding the brain.
• Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Barber's rash: Skin infection in facial hair areas
• Barrett syndrome: A chronic peptic ulcer of the esophagus.
• Bartschi-Rochaix syndrome: A range of symptoms caused by compression of the cerebral artery.
• 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).
• Beals syndrome: A rare genetic connective tissue disorder characterized by joint contractures, arachnodactyly and a crumpled appearing ear.
• Behcet's Disease: Recurring inflammation of small blood vessels affecting various areas.
• Bell's palsy: A one sided muscle paralysis of sudden onset due to a problem with the facial nerve
• Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Blepharophimosis - nasal groove - growth delay: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
• Blepharophimosis - nasal groove - growth retardation: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
• Blepharoptosis - aortic anomaly: A rare disorder characterized mainly by the presence of droopy upper eyelids and an abnormal aorta.
• Borreliosis: An infectious bacterial disorder that is transmitted by ticks and causes skin rashes joint swelling and other symptoms similar to the flu.
• Brachmann-De Lange Syndrome: A rare congenital disorder characterized by very small stature, synophrys, thin downturning upper lip and micromelia.
• Bronchopulmonary dysplasia: A condition which is characterized by dysplasia of the brochopulmonary vessels
• Brudzinski's sign: A symptom which occurs in meningitis when flexion of the neck causes flexion of the hip and knee
• Bubonic plague: Severe flea-borne bacterial disease
• Buffalo Hump: Fat accumulation on the back of the neck.
• Bulging neck veins: Unusual bulging of neck veins or arteries
• Calabro syndrome: A rare syndrome characterized mainly by premature fusion of skull bones, arm and leg abnormalities, small jaw, short neck and genital defects.
• 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.
• Camptodactyly syndrome, Guadalajara type 1: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head.
• Camptodactyly syndrome, Guadalajara type III: A rare syndrome characterized mainly by a variety of defects including facial dysmorphism.
• Candidiasis familial chronic mucocutaneous, autosomal dominant, with thyroid disease: A dominantly inherited condition characterized by poor immunity to fungal infections (particularly those caused by Candida albicans) as will as thyroid disease. Persistent fungal infections tend to affect the nails, skin or mucous membranes. The degree of severity is variable with some cases leading to fugal infection of the brain which is usually fatal.
• Cantu Sanchez-Corona Garcia-cruz syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
• Cantú syndrome: A rare syndrome characterized mainly by excessive growth of hair, enlarged heart and abnormal development of bone and cartilage
• Carbohydrate deficiency glycoprotein syndrome type II: 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 2 is caused by a genetic defect which involves the gene for a particular enzyme (Golgi localized N-acetyl-glucosaminyltransferase II). Type 2 tends to have more severe psychomotor retardation than type 1 but there is no peripheral neuropathy or underdeveloped cerebellum.
• Carcinoma of the vocal tract: Cancer of the vocal cords in the larynx.
• Carcinoma, squamous cell of head and neck: A type of cancer that occurs in the mucosal lining of parts of the head and neck e.g. esophagus, sinuses, nasal cavity, pharynx, mouth and lips. Symptoms will vary depending on the exact location of the cancer.
• 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.
• Centronuclear myopathy, congenital: A severe inherited form of muscle wasting disease which often results in infant death.
• Cervical Spondylosis: Condition where bony changes within the cervical spine causes spinal cord compression with associated neck pain; usually seen in patients over 40 years of age.
• Cervical bruit: Audible blood flow through a cervical vessel, indicating abnormal flow.
• Cervical lymphadenopathy: The enlargement of the cervical lymph nodes
• Cervicogenic headache: Cervicogenic headache is a syndrome characterized by chronic hemicranial pain that is referred to the head from either bony structures or soft tissues of the neck.
• Cervicooculoacoustic syndrome: A rare genetic disorder characterized by ocular palsy, congenital perceptive deafness and fusion of the vertebrae in the neck.
• Chemical meningitis: Symptomatic aseptic, chemical meningitis is a rare complication of myelography. A number of these cases have a history of one or more episodes of chemical meningitis preceding their arachnoiditis.
• Chemical poisoning - Helium: Helium is a chemical used mainly in helium balloons, neon signs and diving gas. The gas is sometimes misused as an inhalant. 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 - Strychnine: Strychnine is 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.
• Chitty-Hall-Webb syndrome: A very rare syndrome characterized mainly by fractures, bowed shin bones, abnormal forearm bone (radius) and reduced bone mass.
• Chordoma: Chordomas are tumors originating from embryonic remnants of the primitive notochord
• 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, monosomy 1p31 p22: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, missing teeth and small eyes and jaw.
• Chromosome 1, monosomy 1p34 p32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, fingernail anomalies and testicular problems.
• Chromosome 1, monosomy 1q25 q32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as digital defects, facial dysmorphism, retarded growth, mental retardation and spasticity.
• Chromosome 1, monosomy 1q32 q42: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as fetal or newborn death, facial dysmorphism, short stature, finger defects and various other anomalies.
• Chromosome 1, monosomy 1q4: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as facial dysmorphism, retarded fetal growth, seizures, mental retardation, testicular problems and kidney defects.
• Chromosome 1, pter-p36: A very rare chromosomal disorder where the end portion of the short arm of chromosome 1 is missing. The type and severity of symptoms is variable.
• Chromosome 1, uniparental disomy 1q12 q21: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
• Chromosome 10p duplication/10q deletion syndrome: A rare chromosomal disorder where a section of the short arm (p) of chromosome 10 is duplicated and a section of the long arm (q) of chromosome 10 is deleted resulting in various abnormalities.
• Chromosome 10p terminal deletion syndrome: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
• Chromosome 11, Partial Trisomy 11q: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
• Chromosome 11q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 11 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
• Chromosome 12, 12p trisomy: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• 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 12p deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 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 12p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities.
• Chromosome 12p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• Chromosome 12p partial deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 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 12p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities.
• 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 13p duplication: A rare chromosomal disorder where duplication of a portion of chromosome 13 causes various abnormalities such as mental retardation, short stature, facial dysmorphism, delayed puberty and heart defects.
• 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 partial deletion: A rare chromosomal disorder where part of 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 14 trisomy: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 14 trisomy syndrome: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities.
• Chromosome 14, trisomy mosaic: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients.
• Chromosome 14q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
• Chromosome 15 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 15 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 15 trisomy: A rare chromosomal disorder involving an extra copy of genetic material from chromosome 15.
• Chromosome 15, distal trisomy 15q: A very rare chromosomal disorder where the end part of the long arm (q) of chromosome 15 occurs three times in each cell instead of two. Symptoms and severity depend on the size of the chromosomal portion that is duplicated.
• 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 tetrasomy syndrome: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities.
• Chromosome 15q, partial duplication (distal q arm): A rare chromosomal disorder involving an extra copy of genetic material from the distal part of 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, tetrasomy: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is involved.
• 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 16p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 16. 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 16q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material. Severe cases often result in spontaneous abortion or infant death.
• 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 17q, partial duplication: A rare chromosomal disorder involving an extra copy 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 duplicated genetic material.
• Chromosome 18, Tetrasomy 18p: A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities.
• Chromosome 18, trisomy 18q: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 19 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 19 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 19p duplication syndrome: A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities.
• Chromosome 19q, partial duplication: A rare chromosomal disorder where the long arm of chromosome is triplicated. The type and severity of symptoms is determined by the size of the duplicated genetic portion.
• Chromosome 1p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• 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 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• 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 20, deletion 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted 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 20p deletion syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted 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 20q duplication syndrome: A rare chromosomal disorder involving a duplication of the long arm (q) of chromosome 20 resulting in various physical and developmental abnormalities.
• 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 21, tetrasomy 21q: A rare chromosomal disorder where there is four copies of the long arm of chromosome 21 instead of the normal two which results in various physical and mental anomalies.
• Chromosome 21q deletion syndrome: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 21 is missing. The symptoms or severity may vary somewhat between patients.
• Chromosome 21q, partial deletion: A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted.
• Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.
• Chromosome 22, monosome mosaic: A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 22, monosomy mosaic: A very rare chromosomal disorder where one copy of chromosome 22 occurs in some of the body's cells and results in various anomalies.
• 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 2p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• 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, monosomy 3q13: A rare chromosomal disorder characterized by a range of abnormalities including facial anomalies, kidney dysfunction, large head, small penis and impaired joint mobility.
• Chromosome 3, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.
• 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 3, trisomy 3q13 2 q25: A rare chromosomal disorder characterized by various abnormalities including hearing loss, mental retardation, short stature, obesity and uterine and facial anomalies.
• Chromosome 4 short arm deletion: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 4, monosomy 4p14 p16: A rare chromosomal disorder characterized by various abnormalities including muscle problems, tall stature, mental retardation and hand and facial anomalies.
• Chromosome 4, trisomy 4p: A rare chromosomal disorder where a portion of chromosome four is duplicated so there is three copies of it instead of the normal two.
• Chromosome 4, trisomy 4q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 4p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 4p15-16 deletion syndrome: A rare chromosomal disorder where part of the short arm (p15-16) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 4q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.
• Chromosome 6 ring syndrome: A rare chromosomal disorder where the ends of chromosome 6 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 6, monosomy 6p23: A very rare chromosomal disorder characterized by various abnormalities including mental retardation, facial, finger and toe anomalies as well as heart, skeletal and neurological problems.
• Chromosome 6, monosomy 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 6, monosomy 6q1: A rare chromosomal disorder involving the deletion of a portion of the long arm of chromosome 6.
• Chromosome 6, partial trisomy 6q: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
• Chromosome 6, trisomy 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated 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 6q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 6q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 7, monosomy 7q3: A very rare chromosomal disorder involving a deletion of material from chromosome 7 at a location known as q3 which results in a wide range of abnormalities.
• Chromosome 7q partial deletion: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of deleted genetic material.
• Chromosome 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
• Chromosome 8 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities.
• Chromosome 8, Monosomy 8p2: A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material deleted.
• Chromosome 8, Monosomy 8p21-pter: A rare chromosomal disorder where there is one copy of part of the short arm (p) of chromosome 8 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material 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 8, partial trisomy: A rare chromosomal disorder where there are three copies of part of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 8, trisomy: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 8, trisomy 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Chromosome 8p deletion syndrome: A rare chromosomal disorder involving deletion of the short arm (p) of chromosome 8 resulting in various abnormalities.
• Chromosome 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication.
• Chromosome 8q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 8q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Chromosome 9 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two 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, monosomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities.
• Chromosome 9, partial trisomy 9p: A very rare genetic disorder where a portion of the genetic material on the short arm (p) 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, trisomy: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 9, trisomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is duplicated so there is three copies of it instead of the normal two.
• Chromosome 9, trisomy 9q32: A rare chromosomal disorder where duplication of a portion of chromosome 9 causes various abnormalities such as short stature and mental retardation and facial anomalies.
• 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 deletion syndrome: A rare genetic disorder where a portion of the genetic material from the short arm of chromosome 9 is missing. The symptoms or severity may vary somewhat between patients.
• 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.
• Coleman Randall syndrome: A rare condition (one reported case) characterized by deafness, underdeveloped gonads, pili torti and a deficiency of growth and luteinizing hormone.
• 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 1H: 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 Ih is caused by a defect on chromosome 11pter-p15.5 and involves the gene for a particular enzyme (dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase).
• Congenital disorder of glycosylation type 2E: 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 2e is caused by a defect on chromosome 16p and involves a defect in the gene for oligomeric complex-7.
• Cormier Rustin Munnich syndrome: Deficiency of certain chemicals involved in the respiratory chain can result in various malformation depending on the chemical involved and the degree of deficiency.
• Cornelia de Lange syndrome 1: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 1 is more severe than type 2 though the range and severity of symptoms is variable.
• Costello syndrome: A rare genetic disorder characterized by papillomas which may become malignant.
• Cowden's syndrome: A rare hereditary condition characterized by multiple noncancerous nodules called hamartomas. Sufferers also face an increased risk of particular cancers.
• Crane-Heise syndrome: A very rare fatal disorder characterized by numerous abnormalities.
• Cranio-facio-cardio-skeletal dysplasia: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and facial and skeletal abnormalities.
• Craniofaciocervical osteoglyphic dysplasia: A very rare syndrome characterized by a short head and face, skeletal anomalies and destruction of tooth sockets.
• Cushing-like symptoms: Symptoms similar to those of Cushing's disease
• 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.
• Cystic Hygroma: A progressive condition characterized by a sac filled with lymphatic fluid that forms in the lymphatic system, usually at the nape of the neck but sometimes in other parts of the body.
• Cystic hygroma, lethal - cleft palate: A very rare lethal syndrome characterized mainly by cysts that form in the lymphatic system as well as an opening in the palate (cleft palate).
• Daneman Davy Mancer syndrome: A very rare syndrome characterized mainly by kidney, thyroid and finger and toea abnormalities.
• Deafness - goiter - stippled epiphyses: A congenital metabolic disorder where the body fails to respond to thyroid hormone even though there is sufficient quantities of the hormone.
• Deafness - thyroid hormone resistance: An inherited disorder where the body fails to respond to thyroid hormone even though there is sufficient quantities of the hormone.
• Degenerative Disc Disease: Chronic or recurrent back and neck pain due to degeneration and occasionally prolapse of spinal discs.
• Del(1) (q25-q32): A very rare chromosomal disorder where a portion of the long arm (q25-q32) of chromosome one is missing. The range 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(1) (q42-qter): A very rare chromosomal disorder where a portion of the long arm (q42-qter) of chromosome one is missing. The type and severity of symptoms is variable.
• Delayed Viral Syndromes: Syndromes caused by viral infections that are delayed in there appearance
• Deletion 10pter: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
• Deletion 10q: A rare disorder caused by the deletion of a portion of chromosome 10q. The range and severity of symptoms is determined by the size of the portion that is deleted.
• 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 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted 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 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Deletion 4p: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 4 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Deletion 6q: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• 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.
• Dental abscess: Abscess of tooth, gum, or jawbone
• Desbuquois dysplasia: A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities.
• Developmental delay - hypotonia extremities hypertrophy: A very rare syndrome characterized mainly by poor muscle tone, developmental delay.
• Diamond-Blackfan anemia: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
• Diffuse large B-cell lymphoma: A common form of non-Hodgkin's lymphoma characterized by abnormal proliferation of B-lymphocytes. It is a cancer of the B-lymphocytes (a type of white blood cell) which, if untreated, can spread to other parts of the body such as the bones and the liver. It differs from follicular lymphoma in that it is a high-grade lymphoma that usually develops rapidly. Follicular lymphoma often transforms into diffuse large B-cell lymphoma.
• Diphtheria: Infectious bacterial respiratory disease
• Disc prolapse: A misaligned or "slipped" disc in the spine.
• Distal Trisomy 11q: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
• Distal arthrogryposis, Moore-Weaver type: A rare disorder characterized mainly by clenched fists, permanent flexion of toes and fingers and head and facial abnormalities.
• Distal trisomy 6q: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
• Distinctive Craniofacial Features - Pterygia - Mental Retardation: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
• Dreyfus syndrome: A rare syndrome characterized by flattened vertebrae, kyphoscoliosis, spinal ankylosis, short neck, dwarfism and other abnormalities.
• Duane anomaly - mental retardation: A very rare syndrome characterized mainly by mental retardation and eye movement problems (Duane anomaly).
• Duplication 12p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material deleted.
• 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 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 6q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Duplication 6q, partial: Partial Trisomy 6q is a very rare genetic disorder where there are three copies of a portion of chromosome 6 in the cells of the body instead of the normal two. The range and severity of symptoms is variable.
• Duplication 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Duplication 9p partial: A very rare genetic disorder where a portion of the genetic material on the short arm (p) 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.
• Dyggve-Melchior-Clausen Syndrome: A rare genetic bone growth disorder characterized by short stature and other skeletal deformities.
• Elejalde syndrome: A rare congenital syndrome characterized excessive fetal growth, skull abnormalities, extra fingers or toes and other abnormalities.
• Ellis-Yale-Winter syndrome: A rare condition characterized by the association of a small head, congenital heart disease, lung segmentation defects and a missing kidney.
• Emanuel syndrome: A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.
• Emery-Dreifuss muscular dystrophy, X-linked: A muscle wasting disorder mainly involving the muscles in the arms, legs, face, neck, spine and heart. Symptoms generally only occur in males but female carriers may have some symptoms.
• Emery-Dreifuss muscular dystrophy, dominant type: A rare disorder characterized by slowly-progressing weakness and wasting of skeletal and heart muscles. The dominant form of the disease is associated with greater variability of symptoms.
• Encephalitis: Infection of the brain (as a symptom)
• 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.
• Engorged Neck Veins: Increased pressure and filling of the veins in the neck, making them appear engorged and stand out
• Enlarged thyroid gland: an enlarged thyroid gland is a lump that can be felt under the skin at the front of the neck. When it is large enough to see easily, it's called a goitre
• Epidermoid carcinoma: A non-small-cell type of lung cancer. The cancer develops from cells that line the inside of the lungs.
• Epstein-Barr virus: Common virus causing mononucleosis
• Erythema chronicum migrans: The first stage of Lyme disease which is transmitted by the bite of the Ixodid tick. The first stage involves a skin rash with systemic symptoms also often occurring.
• 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.
• Escobar syndrome, type B: A rare genetic disorder characterized by a pursed mouth, creased tongue, eye anomalies and a curved spine.
• Esophagus symptoms: Symptoms affecting the esophagus (digestive throat passage)
• Exertional headaches: Headaches that occur after physical exertion
• Facet syndrome: An irritation, sprain or strain involving the vertebral joints of the spine. The exact symptoms may vary depending on the part of the spine involved. The condition most often results osteoarthritis, degenerative disc disease or injury.
• Fetal Hydantoin Syndrome: A rare disorder caused by fetal exposure to phenytoin (anticonvulsant drug) and resulting in various abnormalities.
• Fibrochondrogenesis: A rare genetic disorder characterized by short stature, abnormal bone formation and stillbirth or neonatal death.
• Floating Harbor Syndrome: A rare genetic disorder characterized by growth deficiency, typical facial appearance and speech delay.
• Follicular lymphoma: A form of non-Hodgkin's lymphoma characterized by an abnormal proliferation of B-lymphocytes. It is a cancer of the B-lymphocytes (a type of white blood cell) which, if untreated, can spread to other parts of the body such as the bones and the liver. It differs from diffuse large B-cell lymphoma in that it is a low-grade lymphoma that usually develops slowly. Follicular lymphoma often transforms into diffuse large B-cell lymphoma.
• Fried-Goldberg-Mundel syndrome: A rare syndrome characterized mainly by leg malformations and an abnormally positioned urethral opening (hypospadias) in males.
• Froster-Iskenius-Waterson syndrome: A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles.
• Fryns macrocephaly: A rare syndrome characterized by a large head, seizures, spasticity, weakness and unusual facial appearance.
• Fryns-Aftimos syndrome: A rare syndrome characterized mainly by abnormal brain development, epilepsy, mental retardation and unusual facial appearance.
• 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.
• Generalized resistance to thyroid hormone: An inherited disorder where the body fails to respond to thyroid hormone even though there is sufficient quantities of the hormone.
• Gerlier disease: A disease that occurs usually in farm workers who are exposed to cattle. The condition is usually seen in some parts of Switzerland. Symptoms tend to resolve themselves within a few months.
• Goiter: An enlargement of the thyroid gland
• Goitre: A swelling in the neck due to an enlarged thyroid.
• Golden-Lakin syndrome: A rare syndrome characterized by a webbed neck, sunken chest, curved spine abd various other abnormalities.
• Granulomatous amebic encephalitis: Brain/CNS infection from Acanthamoeba bacteria
• Graves disease: A condition which is an autoimmune disease that affects the thyroid resulting hyperthyroidism
• Guillain-Barre syndrome: An acute condition which is characterized by polyradiculoneuropathy that affects the peripheral nervous system
• 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.
• Hajdu-Cheney Syndrome: A rare genetic disorder characterized by early tooth loss, relaxed joints, small stature and bone abnormalities.
• Halal syndrome: A very rare syndrome characterized mainly by a small head and a cleft palate.
• Hashimoto's thyroiditis: A progressive disease of the thyroid which leads to degeneration and hypothyroidism
• Haspeslagh Fryns Muelenaere syndrome: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Head injury: Any injury that occurs to the head
• Heart attack: An acute myocardial infarction
• Hemophilus influenzae B: Bacterial respiratory infection with dangerous complications.
• Herrmann-Opitz craniosynostosi: A very rare syndrome characterized mainly by mental retardation, skeletal abnormalities and an unusual facial appearance.
• Hilger syndrome: A type of headache caused by dilation of the carotid arteries and their branches. It may follow a viral illness, be associated with arteriosclerosis or occur for no obvious reason. Treatment and prognosis is determined by the cause.
• Hip cancer: The presence of tumour growth in the bone of the hip, whether due to primary malignancies e.g. leukaemic or myeloma infiltration of the bone marrow, or due to secondary metastases from another site e.g. lung or breast; cancer affecting bone of hip likely to affect other bones e.g. vertebra, ribs
• Hodgkin's Disease: A form of cancer that affects the lymphatic system.
• Hunter-Carpenter-Macdonald syndrome: A very rare syndrome characterized by various abnormalities including small head, facial anomalies, mental retardation and hair, skin and nail anomalies. Fetal exposure to alcohol is believed to be a factor in the syndrome.
• Huntington's disease: Inherited disease causing progressive mental deterioration.
• Hyperthyroidism: The excessive activity of the thyroid gland
• Hyperthyroidism - Teratogenic Agent: There is strong evidence to indicate that the development of hyperthyroidism 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.
• Hypertrichotic osteochondrodysplasia: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
• Hypogonadism - mitral valve prolapse - mental retardation: A very rare syndrome characterized mainly by a heart disorder, hypogonadism and mental retardation.
• Hypopharyngeal cancer: Cancer of the bottom part of the throat (hypopharynx).
• Hypothyroidism: The decreased activity of the thyroid gland
• Hypothyroidism - Teratogenic Agent: There is strong evidence to indicate that the development of hypothyroidism 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.
• Hypothyroidism due to iodide transport defect: Low thyroid hormone levels in infants due to abnormal iodide transport in the body caused by a genetic defect. The severity of the condition varies depending on the extent of the defect and the length of time taken to diagnose the condition. Symptoms tend to become worse, the longer the condition is undiagnosed.
• Inheritable disorders of connective tissue: Disorders that affect the connective tissue of the body that are handed down from generation to generation
• Intervertebral disc disease: Degenerative changes in the discs located between vertebrae. The severity of the disorder is variable.
• Intracranial Hemorrhages: Bleeding inside the skull. The condition is a medical emergency and the greater the bleeding, the more severe the condition.
• Iodine (insufficiency) - Teratogenic Agent: There is evidence to indicate that a lack of Iodine 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.
• Iodine - Teratogenic Agent: There is evidence to indicate that exposure to Iodine 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.
• Iodine deficiency: Dietary deficiency of iodine affecting the thyroid.
• Iridogoniodysgenesis and skeletal anomalies: A rare syndrome characterized by skeletal anomalies, congenital glaucoma and an unusual facial appearance.
• 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.
• 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.
• Jarcho-Levin Syndrome: A rare genetic disorder characterized by spinal column abnormalities, dwarfism and a swollen abdomen as well as other anomalies.
• Jequier-Kozlowski-skeletal dysplasia: A very rare syndrome characterized mainly by various skeletal abnormalities and facial anomalies.
• Jugular vein distention: The bulging distention of the jugular vein
• Juvenile Rheumatoid Arthritis: Chronic arthritis affecting children and teens
• KBG Syndrome: A very rare genetic disorder involving short stature, mental retardation, abnormal development of various bones.
• Kawasaki disease: A childhood illness that generally affects the skin, mouth and lymph nodes.
• Kennerknecht syndrome: A very rare syndrome characterized mainly by absent gonads, mental retardation, short stature, retarded bone age and heart abnormalities. The observed cases involved a family whose parents were related.
• Kennerknecht-Sorgo-Oberhoffer syndrome: A very rare syndrome characterized mainly by absent gonads and an underdeveloped right side of the heart.
• 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.
• Kniest-like dysplasia lethal: A lethal syndrome characterized primarily by severe skeletal abnormalities.
• Koussef nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
• Kousseff-Nichols syndrome: A very rare syndrome characterized mainly by muscle problems, a high body temperature and various other physical abnormalities.
• Laing distal myopathy: An inherited muscle disease characterized by early-onset weakness and wasting in the distal muscles. The disease progresses slowly and starts in the ends of the limbs but usually also involves the neck and eventually abdominal muscles.
• Laplane-Fontaine-Lagardere syndrome: A very rare syndrome characterized mainly by very short stature and progressive stiffness of joints including the spine and hips.
• Laryngeal carcinoma: Cancer of the laryngeal area. Smoking and alcohol increase the risk of this cancer.
• Larynx symptoms: Symptoms affecting the larynx (voice box) in the neck
• Lassa fever: Infectious rat-borne West African disease.
• Launois-Bensaude adenolipomatosis: A benign condition characterized by the development of lumps in the lymph nodes, especially in the neck, armpits and groin.
• 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.
• Lethal arthrogryposis with anterior horn cell disease: A lethal genetic disorder involving multiple contractures and facial abnormalities.
• Lethal arthrogryposis with anterior horn cell disease (LAAHD): A lethal disorder characterized by arthrogryposis and loss of anterior horn motor neurons which results in a lack of fetal movement.
• Leukodystrophy: A very rare group of metabolic diseases where chemical anomalies affect the development or maintenance of the protective coating around nerves (myelin sheath). The brain, spinal cord and peripheral nerves may be involved. The range and severity of symptoms is determined by the chemical involved but one of the main symptoms for all the leukodystrophies is a gradual loss of previously acquired mental or physical skills.
• Levothyroxine - Teratogenic Agent: There is evidence to indicate that exposure to Levothyroxine 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.
• Lindstrom syndrome: A rare disorder characterized by mental retardation, facial anomalies, short stature and seizures.
• Liotrix - Teratogenic Agent: There is evidence to indicate that exposure to Liotrix 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.
• Listeriosis: Bacterial food poisoning
• Lubarsch-Pick syndrome: A rare disorder involving abnormal amyloid deposits in various parts of the body - heart, skin, muscles, stomach and intestines.
• Lumbar malsegmentation - short stature: A very rare syndrome characterized mainly by short stature and abnormal segmentation of the vertebrae in the abdominal segment of the spine.
• Lumbar malsegmentation, short stature and facial anomalies: A rare syndrome characterized by vertebral abnormalities, short stature and facial anomalies.
• 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
• Lymphoma: Any neoplastic disorder that occurs in lymphoid tissue
• 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.
• MURCS Association: A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
• MacDermot-Winter syndrome: A very rare syndrome characterized mainly by a small head, underdeveloped genitalia and a protrusion of the area between the eyes (glabella).
• Madelung's disease: A rare disorder involving defective fat metabolism which leads to a buildup of fat deposits in neck and shoulder area. Mainly occurs in male alcoholics.
• Mantle cell lymphoma: A form of non-Hodgkin's lymphoma (a cancer of the B-lymphocytes) which has a very poor prognosis with the 5-year survival rate being about 25%. The lymphoma can spread to other parts of the body such as the liver, spleen or bone marrow.
• Maroteaux-Stanescu-Cousin syndrome: A very rare lethal syndrome characterized mainly by abnormal bone development.
• 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.
• McCune-Albright Syndrome: A rare genetic multisystem disorder characterized by abnormal skin pigmentation and endocrine gland dysfunction and replacement of parts of bone tissue with fibrous material.
• Meckel Syndrome: A rare genetic disorder involving numerous abnormalities and characterized by death within the first few weeks.
• Medrano-Roldan syndrome: A very rare syndrome characterized mainly by mental retardation, reduced muscle tone and increased skin pigmentation.
• Melioidosis: Bacterial infection from soil or water.
• Meningitis: Infection of the membrane around the brain (as a symptom)
• 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.
• Meningococcal infection: A rare infectious disease caused by a bacterium called Neisseria meningitides.
• Mental Retardation - Pterygia - Shortness - Distinctive Facial Appearance: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Mental retardation - blepharophimosis - obesity - web neck: A very rare syndrome characterized mainly by mental retardation, eye abnormalities, obesity and a webbed neck.
• Mental retardation - short stature - deafness - genital: A very rare syndrome characterized mainly by mental retardation, short stature, deafness and genital abnormalities.
• Mental retardation - unusual facies - talipes - hand anomalies: A very rare syndrome characterized mainly by mental retardation, unusual facial appearance, clubfoot and hand abnormalities.
• Mental retardation, X-linked, Vitale type: A rare disorder characterized by mental retardation and facial and skeletal anomalies. 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. The genetic defect occurs on chromosome Xq24.
• Mesomelia radial hypoplasia bifid thumb unusual facies: A rare syndrome characterized mainly by skeletal abnormalities, dwarfism and hair, nail, skin and teeth abnormalities.
• Metastatic squamous neck cancer with occult primary: A type of cancer that occurs in the neck and has spread (metastasized) to the lymph nodes from a primary source that has not been able to be determined. Squamous cells are cells that line hollow organs as well as the skin and throat.
• Methimazole - Teratogenic Agent: There is evidence to indicate that exposure to Methimazole 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.
• Microcephaly - cervical spine fusion anomalies: A very rare syndrome characterized mainly by a small head and fused neck vertebrae.
• Microlissencephaly - micromelia: A rare syndrome characterized mainly by short arms, a brain defect called microlissencephaly, small head and early death.
• Micromelic dwarfism, Fryns type: A very rare syndrome characterized mainly by short-limbed dwarfism.
• Minicore disease: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The rate of progression and severity of symptoms is variable.
• Minicore myopathy, antenatal onset, with arthrogryposis: A rare congenital muscle disorder involving muscle weakness and wasting. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The antenatal form with arthrogryposis is distinguished by the presence of contractures at birth due to reduced fetal movement as well as various physical anomalies. The severity of symptoms is variable.
• Mononucleosis: Common infectious virus.
• Monosomy 20p: A rare chromosomal disorder where the short arm (p) of chromosome 20 is deleted 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.
• Monosomy 8q21 q22: A very rare chromosomal disorder where a portion of chromosome 8q is missing resulting in various abnormalities.
• Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate - type A, ? galactosidase - type B) needed to break it down. The symptoms are variable with type A and B being clinically indistinguishable.
• Morquio syndrome type A: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate) needed to break it down.
• Morquio syndrome, type B: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (? galactosidase) needed to break it down.
• Mucopolysaccharidoses: A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans
• Mucopolysaccharidosis VI: A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans
• 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.
• Mucopolysaccharidosis type I Hurler syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down. There are three main sub-types of the disorder: Hurler - severe form, Scheie - mild form and Hurler/Scheie form which is intermediate.
• Mucopolysaccharidosis type I Scheie syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-iduronidase) needed to break it down.
• 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.
• Mullerian derivatives - lymphangiectasia - polydactyly: A rare syndrome characterized by extra fingers, Mullerian duct remnants and lymphangiectasia.
• Multiminicore disease (MmD): A rare congenital muscle disorder involving weakness and wasting of skeletal muscles. The term minicore comes from the small core structures that occur in the muscle tissue. There are four subgroups of the disorder: classic form (rigid spine syndrome), progressive form with hand involvement, antenatal form with arthrogryposis multiplex congenital and the ophthalmoplegic form. The rate of progression and severity of symptoms is variable.
• Multiple pterygium syndrome: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
• Multiple pterygium syndrome, autosomal recessive: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
• Muscle contraction headache: Headache from tension or muscle contraction.
• Myasthenia Gravis: An autoimmune disorder which interferes with nerve impulses to muscles and hence results in weak, easily fatigued muscles.
• Myopathy, X-linked with postural muscle atrophy: An inherited, adult-onset muscle disease where the postural muscles become progressively weak and wasted while other muscles become enlarged. During early adulthood, patients tend to have an athletic build and muscle symptoms tend to start during the fourth decade of life. Death usually occurred between the ages of 40 and 75 years of age due to involvement of the heart.
• Naegleria: Rare bacterial infection from contaminated water
• Narcolepsy: Narcolepsy is characterized by the classic tetrad of excessive daytime sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis.
• Narrow oral fissure - short stature - cone-shaped epiphyses: A very rare syndrome characterized mainly by narrow mouth opening, short stature and abnormal bone development.
• Nasopharyngeal carcinoma: A malignant cancer that occurs in the nasopharynx area which is the upper part of the throat. Often there are no symptoms until the cancer has metastasized to other parts of the body such as the neck.
• Neck Arthritis: Degenerative arthritic changes in the neck causing pain and loss of function; may be due to age-related degenerative change (osteoarthritis) or due to autoimmune disease (rheumatoid arthritis)
• Neck Bruise: Bruising that occurs in the neck.
• Neck Coldness: Cold sensation on the neck
• Neck Itch: A sensation occurring in the neck that leads to a feeling of wanting to scratch.
• Neck Numbness: Numb sensation or loss of feeling in the neck
• Neck Spasm: Contraction of muscles in the neck causing a spasm.
• Neck Tingling: Tingling, prickling or pins and needles sensation occurring in the neck.
• Neck conditions: Any condition that affects the neck
• Neck injury: Any injury that occurs to the neck
• Neck lump: Lump in the neck area
• Neck muscle strain: Damage to the neck muscle due to over-stretching of the muscle tissue. The damage involves tearing the muscle tissue. Small blood vessels may also be damaged which can cause bruising. The symptoms may vary from mild to severe depending on the severity of the damage. Neck strain is most often caused by whiplash in vehicle accidents.
• Neck pain: Pain affecting the neck
• Neck rash: Rash occurring in the neck.
• Neck stiffness: The feeling of neck stiffness
• Neck swelling: Swelling in or around the neck
• Neck symptoms: Symptoms affecting the neck
• Neck tingling/paresthesias: A tingling and numbness that is located at the neck
• Neck weakness: Weakness of the neck.
• Necrobacillosis: A form of bacterial blood infection caused by Fusobacterium necrophorum which can occur as a complication of throat infections. The infection is potentially fatal and can cause the development of abscesses in various parts of the body including the brain and lungs .
• Nemalin myopathy, late onset type: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemalin rods in the muscle tissue which affects its function. The muscle weakness may be severe but is generally not a progressive condition. The main muscles affected are the limbs, neck and face. The legs are generally more affected in the late onset type.
• Neonatal bacterial meningitis: Bacterial meningitis that occurs in an infant under 3 months of age. Bacterial meningitis is a bacterial brain infection.
• Neu-Laxova Syndrome: A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage.
• Neuroblastoma: neuroblastoma is a malignant (cancerous) tumor of infants and children that develops from nerve tissue
• Neurofibromatosis-Noonan syndrome: A rare disorder where the patients has symptoms of neurofibromatosis (nerve tumors) and Noonan syndrome (short stature, bleeding problems, heart defect, unusual facial features, skeletal anomalies, webbed neck).
• Neurosyphilis: Syphilis affecting the nervous system.
• Nevoid basal cell carcinoma syndrome: A rare genetic disorder characterized by basal cell carcinomas, broade face and rib abnormalities.
• Non-Hodgkin's lymphoma: A condition which is any neoplastic disorder of the lymphoid tissue
• Non-Small Cell Lung Cancer: It is any type of lung cancer other than small cell carcinoma (SCLC). As a class, NSCLCs are relatively insensitive to chemotherapy, compared to small cell carcinoma
• Nonkeratan-sulfate-excreting Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down. This disorder is distinguished form other similar conditions by the fact that no keratosulfate is excreted in the urine.
• Noonan Syndrome: A rare genetic disorder characterized by a webbed neck, chest deformity, undescended testes and pulmonic stenosis.
• Noonan syndrome 3: A genetic condition characterized by short stature, distinctive facial characteristics, learning difficulties, congenital heart conditions and various other anomalies.
• Noonan-like syndrome: A very rare syndrome characterized mainly by heart problems, facial anomalies and a sunken chest.
• Oculo cerebro acral syndrome: A very rare syndrome characterized mainly by eye, brain, ear and limb abnormalities.
• Oculo-cerebro-acral, (Roberts-like)-ectrodactyly: A rare condition characterized by abnormalities of the eye, brain and extremeties as well as split hand and foot deformities.
• Omsk hemorrhagic fever: A hemorrhagic fever caused by a virus. A serious outbreak occurred in Omsk and hence the name. Transmission occurs through tick bites. The infection has two phases: the first acute phase involves symptoms such as fever, rash and muscle pain and the second phase occurs after a week or two and involves the central nervous system (e.g. delirium, convulsions).
• Ophthalmoplegia, progressive external - scoliosis: A very rare syndrome characterized mainly by progressive eye muscle weakness and scoliosis.
• Opthalmoplegia progressive external scoliosis: A rare disorder characterized by progressive weakening of external eye muscles and scoliosis.
• Optic neuropathy, anterior ischemic: Impaired vision due to optic nerve damage caused by problems with the blood supply to the nerve. The non-arteritic form is caused by and interrupted blood supply to the optic disk. Usually one eye is affected first and maybe eventually be followed by the other. Often only part of the visual field is affected.
• Oral cancer: Cancer (malignant) of the lip or inside the mouth.
• Oropharyngeal cancer, adult: Cancer of the back of the mouth which forms part of the throat including the back of the tongue, tonsils, part of the throat wall and soft palate (oropharynx).
• Osteomyelitis: An infection that occurs in bone
• Parastremmatic dwarfism: A rare disorder characterized by severe dwarfism, kyphoscoliosis, contractures of the large joints and twisted and bowed limb bones.
• Parathyroid cancer, adult: A rare cancer that can occur in the parathyroid gland in adults. The parathyroid glands regulate body calcium levels so cancer of the gland upsets the body's calcium balance causing muscle, bone and other symptoms.
• Pena Shokeir syndrome, type 1: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
• Pendred syndrome: An inherited condition characterized by hearing loss and goiter formation. The enlarged thyroid gland often continuges to function normally.
• Peripheral T-cell lymphoma: An aggressive form of non-Hodgkin's lymphoma characterized by the proliferation of abnormal T-lymphocytes that circulate in the blood in the peripheral parts of the body. It is a rapidly growing lymphoma.
• Pharyngitis: Inflammation of the pharynx.
• Pharyngoconjunctival fever: An infectious disease usually caused by adenovirus type 3. The infection may be acute, epidemic or sporadic and is more common in children. Infection can be transmitted through swimming pools. The incubation period is 5-9 days.
• Piepkorn karp hickoc syndrome: A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
• Pilotto syndrome: A very rare syndrome characterized mainly by congenital heart disease, cleft lip and palate, scoliosis, short stature and mental retardation.
• Plague: Any epidemic disease with a high death rate.
• Platyspondylic lethal chondrodysplasia: A rare genetic disorder involving abnormal bone development and flattened vertebral bones. The condition generally results in death before or soon after birth.
• Polio: Dangerous virus now rare due to vaccination.
• Polymyalgia rheumatica: A condition characterized by muscle pain and stiffness, fatigue and fever. It is often associated with giant-cell arteritis which is a related but more serious condition.
• Postoperative septicaemia: When a person contracts a bacterial infection in their blood system that occurs after an operation
• Potassium Iodide - Teratogenic Agent: There is evidence to indicate that exposure to Potassium Iodide 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.
• Povidone-Iodine - Teratogenic Agent: There is evidence to indicate that exposure to Povidone-Iodine 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.
• Primary amebic meningoencephalitis: A relatively rare but serious infectious disease caused by Naegleria fowleri which is a type of free-living amoeba that can be found in warm fresh water and damp soil. The incubation period is from a few days to a week.
• Propylthiouracil - Teratogenic Agent: There is evidence to indicate that exposure to Propylthiouracil 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.
• Pterigium Colli: A rare malformation involving webbing of the neck area.
• Pterygia - Mental retardation - Distinctive Craniofacial Features: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Pterygium colli - mental retardation - digital anomalies: A very rare syndrome characterized mainly by mental retardation, webbed neck and finger abnormalities.
• Pure red cell aplasia, congenital: A rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
• Quattrin mcpherson syndrome: A rare syndrome characterized mainly by a large mouth, developmental delay and an unusual facial appearance.
• Quinsy: Tonsil abscess
• Radio renal syndrome: A very rare syndrome characterized mainly by kidney, forearm and and thumb abnormalities.
• Raine syndrome: A very rare syndrome characterized mainly by increased bone density which ultimately results in death.
• Recurring meningitis: This is a form of benign, recurrent, aseptic meningitis.
• Renal dysplasia - limb defects syndrome: A very rare syndrome characterized mainly by abnormal kidney development and various arm bone defects.
• Resistance to thyroid stimulating hormone: A very rare disorder where the body is unable to respond to thyroid stimulating hormone even though it is present in sufficient quantities. The problem lies in defective thyroid stimulating hormone receptors.
• Respiratory diphtheria: Lung infection from Diphtheria
• Retropharyngeal abscess: The high mortality rate of retropharyngeal abscess is owing to its association with airway obstruction
• Rhabdomyosarcoma, embryonal: A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Symptoms depend on size and location of the tumor.
• Rhabdomyosarcoma, embryonal 1: A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Symptoms depend on size and location of the tumor. There are two subtypes of this cancer with main difference lying in the genetic origin of the disease. Type 1 is linked to a defect on chromosome 11p15.5.
• Rhabdomyosarcoma, embryonal 2: A type of cancer that arises from rhabdomyoblasts which are immature muscle cells. The tumors can occur arise from muscle tissue almost anywhere in the body but in the embryonal form, tends to occur primarily in the head, neck and genitourinary areas. Symptoms depend on size and location of the tumor. There are two subtypes of this cancer with main difference lying in the genetic origin of the disease. Type 1 is linked to a defect on chromosome 11p15.5.
• Rheumatoid arthritis: An autoimmune inflammatory condition which primarily affects the joints
• Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa: A very rare syndrome characterized by an eye disorder, scoliosis and other skeletal abnormalities.
• Rhizomelic syndrome: A very rare syndrome characterized mainly by short upper arm and thigh bones. Death frequently occurs in early childhood.
• Rib symptoms: Symptoms affecting the ribs
• Rosacea: Inflammatory rash affecting cheeks, nose, forehead, chin
• Rubella: A contagious viral infection caused by the Rubella virus which produces a rash and lymph node swelling. It can have serious implication in pregnant women as the virus can be transmitted through the placenta and cause serious fetal defects or even fetal death.
• SAPHO syndrome: A rare disorder involving skin (acne, pustulosis), bone (hyperostosis, osteitis) and joint problems.
• SCARF syndrome: A rare syndrome characterized mainly by skeletal abnormalities, loose skin, premature fusion of skull bones, ambiguous genitalia, psychomotor retardation and facial abnormalities.
• Sacral meningocele - conotruncal heart defects: A very rare syndrome characterized by mainly by heart defects involving the heart outflow vessels and valves, tailbone meningocele and abnormal kidney development.
• Sakati syndrome: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
• Salivary gland cancer: Salivary gland cancer is a rare form of cancer in which malignant (cancer) cells form in the tissues of the salivary glands in the mouth, neck or throat
• Scarlet fever: A complication of infection from strep bacteria such as strep throat.
• Schinzel Giedion Syndrome: A rare genetic disorder characterized by many skeletal and genital anomalies, unusual face, mental retardation and kidney malformations.
• Schneckenbecken dysplasia: A very rare genetic disorder involving defective bone and cartilage development which causes cleft palate, short neck, short stature, unusual iliac shape and other bone abnormalities. The condition generally results in stillbirth or death soon after birth.
• Schwartz-Jampel Syndrome: A rare genetic disorder characterized by myotonia, blepharophimosis and joint limitation.
• Sclerocornea, Syndactyly, ambiguous genitalia: A very rare syndrome characterized mainly by hardening of the corneas, webbed fingers and ambiguous genitalia.
• Serpentine fibula - polycystic kidney syndrome: A very rare syndrome characterized mainly by unusual s-shaped calf bone (fibula) as well as the development of numerous cysts in the kidneys.
• Shaken Baby Syndrome: A condition caused by violent shaking of a baby.
• Short ribs - craniosynostosis - polysyndactyly: A very rare syndrome characterized mainly by short ribs, premature fusion of skull bones and webbed fingers.
• Short stature - contractures - hypotonia: A very rare syndrome characterized mainly by reduced muscle tone, short stature and contractures.
• Short stature - craniofacial anomalies - genital hypoplasia: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
• Short stature webbed neck heart disease: A rare syndrome characterized mainly by heart disease, short stature and a webbed neck.
• Shortness of breath: The feeling of being short of breath
• Shprintzen omphalocele syndrome: A rare syndrome characterized mainly by abnormal development of the pharynx and larynx which can result in a narrowed airway. Protrusion of intestines through the belly button also occurs. The voice is high pitched and spinal curvature and learning problems are other common symptoms.
• 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).
• Simpson-Golabi-Behmel syndrome, type 2: A rare genetic disorder characterized by hydrops fetalis and various other severe abnormalities. The condition usually results in death within two months of birth.
• Sinusitis: Inflammation of the sinus passages (as a symptom)
• Skeletal dysplasia, San Diego type: A very rare disorder characterized mainly by short limbs and flattened spinal vertebrae. Infants are stillborn or die soon after birth.
• Sketetal dysplasia coarse facies mental retardation: A rare skeletal disorder where the spine and long bones grow and develop abnormally as well as mental deterioration.
• Small Cell Lung Cancer: Small cell lung cancer is a cancer of the small cells which make up some of the lung tissue. It tends to be a more aggressive cancer than large cell lung cancer and can metastasize to other parts of the body. This type of cancer nearly always occurs in a people with a history of smoking.
• Small cell lung cancer, adult: Small cell lung cancer is a cancer of the lung tissue which is made up of small cells. It tends to be a more aggressive cancer than large cell lung cancer and can metastasize to other parts of the body.
• Sodium Iodide - Teratogenic Agent: There is evidence to indicate that exposure to Sodium Iodide 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.
• Sohval-Soffer syndrome: A very rare syndrome characterized mainly by mental retardation, hypogonadism and skeletal abnormalities.
• Spasmodic Torticollis: Recurrent sudden and single lateral movements of the neck.
• Spinal arthritis: Inflammation of the spine joints. The inflammation can be the result of such things as degenerative joint disease, gout, infection, trauma and autoimmune conditions.
• Spondylocostal dysostosis, autosomal recessive 1: A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities. This form is severe and often results in infant death.
• Spondylocostal dysostosis, autosomal recessive 3: A rare, recessively inherited syndrome characterized mainly by rib and spine abnormalities resulting in a short trunk and neck.
• Spondylocostal dysplasia dominant: A rare, dominantly inherited syndrome characterized mainly by rib and spine abnormalities.
• Spondyloepimetaphyseal dysplasia congenita, Iraqi: A very rare syndrome characterized mainly by abnormal bone growth. Only a few cases have been reported.
• Spondyloepimetaphyseal dysplasia with multiple dislocations: A very rare syndrome characterized by abnormal bone growth and multiple joint dislocations.
• Spondyloepimetaphyseal dysplasia, micromelic: A rare skeletal disorder where the spine and long bones grow and develop abnormally. This particular type is characterized by short stature, short limbs and spinal abnormalities.
• Spondyloepiphyseal dysplasia - brachydactyly and distinctive speech: A rare disorder characterized by an unusual voice, characteristic facial appearance and various skeletal abnormalities such as short hands, feet and digits.
• 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.
• Spondyloepiphyseal dysplasia tarda: A rare genetic disorder characterized by short stature and skeletal abnormalities which are usually not apparent before 12 years.
• Spondyloepiphyseal dysplasia, congenita: A rare genetic bone growth disorder characterized by prenatal growth deficiency, myopia and short trunk.
• Spondylohypoplasia arthrogryposis popliteal pterygium: A very rare inherited syndrome characterized by webbing at the back of the knees, spinal defects and various other skeletal abnormalities.
• Spondylohypoplasia, arthrogryposis and popliteal pterygium: A very rare inherited syndrome characterized by webbing at the back of the knees, spinal defects and various other skeletal abnormalities.
• Spondylometaphyseal dysplasia, Kozlowski type: A rare genetic disorder characterized by reduced calcification of the spine and pelvis resulting in short stature.
• Spondylosis: Spinal degeneration of the discs or spinal joints
• Stiff neck: Reduced mobility of the neck
• Strep throat: An infection which occurs in the throat
• 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
• Superior vena cava syndrome: A condition caused by compression or obstruction to the normal circulation of the superior vena cava which carries deoxygenated blood from the body tissues back to the heart.
• Supraglottic laryngeal cancer: Cancer that arises in the tissue above the vocal cords.
• Swollen neck lymph nodes: Swollen lymph nodes in the neck region
• Swollen thyroid gland: An enlarged thyroid gland is a lump that can be felt under the skin at the front of the neck. When it is large enough to see easily,it's called a goiter
• 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.
• Syphilitic aseptic meningitis: A chronic syphilis infection which affects the nervous system.
• Syringomyelia, cervical lesion: A slowly-progressing neurological disorder characterized by a fulid-filled cavity in the spinal cord in the neck region.
• Temporo-mandibular ankylosis: A disorder involving stiffness or fusion of the jaw joint which affects the ability of the jaw to open and close normally. The condition may occur congenitally or may be acquired through such things as trauma.
• Tension headache: constant headache which is frequently bilateral in presentation, which is mild to moderate in nature
• Tetanus: A disease caused by chemicals which are produced by a bacterium (clostridium tetani) and are toxic to the nerves. The infection usually occurs when the bacteria enter the body through a deep wound - these bacteria are anaerobic and hence don't need oxygen to survive.
• Tetrasomy X: A rare chromosomal disorder which causes mental retardation, small head and various other anomalies.
• Thakker-Donnai syndrome: A very rare, severe genetic syndrome characterized by abnormal internal organs and facial anomalies.
• Thoracic outlet syndrome TOS: A rare disorder involving compression or damage to the nerves and blood vessels that go from the neck to the arms or armpit. It may occur as a birth defect or through some sort of traumato the shoulder area. It can causes symptoms such as arm pain and weakness and can occur on one or both sides depending on the nature of the cause.
• Throat symptoms: Symptoms affecting the throat
• Thymus Cancer: Cancer that occurs in the thymus
• Thymus disorders: Any disorder that affects the thymus
• Thyroglossal tract cyst: A rare condition where a soft, slow-growing growth develops at the front of the neck. It occurs as an abnormal growth that develops from thyroid tissue that is left over from fetal development.
• Thyroid agenesis: A rare disorder where the thyroid fails to develop resulting in hypothyroidism from birth.
• Thyroid cancer, Hurthle cell: A rare form of cancer that originates in the thyroid gland. This cancer is characterized by the abnormal presence of Hurthle cells which may signify benign or malignant thyroid cancer. The cancer usually responds well to treatment if detected in the earlier stages.
• Thyroid cancer, anaplastic: A thyroid gland cancer that is quite aggressive and metastasizes to other parts of the body.
• Thyroid cancer, familial medullary: A rare inherited form of thyroid cancer. The familial form of thyroid cancer is more aggressive than other forms.
• Thyroid cancer, follicular: A usually slow-growing cancer of the thyroid gland which is rarely fatal. The cancer develops from cells in the thyroid that produce iodine-containing hormones. This type of cancer usually responds well to treatment.
• Thyroid cancer, medullary: Cancer of the thyroid gland. The cancer develops from the parafollicular cells or in the thyroid gland which produced calcitonin. This type of cancer does not respond to treatment as well as papillary or follicular thyroid cancer. This form of thyroid cancer may be inherited.
• Thyroid cancer, papillary: A usually slow-growing cancer of the thyroid gland which is rarely fatal. The cancer develops from cells in the thyroid that produce iodine-containing hormones. This type of cancer usually responds well to treatment.
• Thyroid hormone plasma membrane transport defect: Thyroid problems caused by a defect in the transport of a thyroid hormone called T4 (thyroxine) within the body. The thyroid produces excessive hormones to try to compensate for that inability of the body to utilize the hormone.
• Thyroid symptoms: Symptoms affecting the thyroid gland
• Thyroiditis: Inflammation of the thyroid gland.
• 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.
• Tonsilitis: Inflammation of the tonsils in the throat.
• Toriello syndrome: A rare syndrome characterized by brachial arch defects and other abnormalities such as short stature, mental retardation and small head.
• Torticollis: Twisted neck
• Tourette Syndrome: A neurological disorder involving vocal and movement tics where where uncontrollable movements or verbal utterances are made.
• Toxoplasmosis: Infection often caught from cats and their feces.
• Tremor: The occurrence of involuntary trembling
• Trigonocephaly - ptosis - coloboma: A rare syndrome characterized by droopy eyelids, brain malformation, a triangular shaped prominent forehead and an eye abnormality.
• Trisomy 14 Mosaic: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients.
• Trisomy 14 Mosaicism Syndrome: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary considerably between patients depending on how many of the body's cells have the extra genetic material.
• Trisomy 19 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 19 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Trisomy 21 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 1 in some of the body's cells. The presence of trisomy 20 in all cells causes Down's syndrome and thus the presence in fewer body cells results in conditions that are similar to Down's but tend to be milder.
• Trisomy 22 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 22 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• 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.
• Tuberculous meningitis: Tuberculous meningitis is an infection of the membranes covering the brain and spinal cord caused by Koch's bacillus.
• Tularemia: A rare infections disease caused by the bacterium Francisella tularensis (a gram-negative pleomorphic coccobacillus). Transmission occurs through contact with infected animals or there habitats e.g. bites from infected insects or other animals, eating infected wild animals, contact with contaminated water and soil. Symptoms can vary greatly depending on the method of infection. For example infection through inhalation can cause symptoms similar to pneumonia, eating infected animals can cause a sore throat and abdominal symptoms and transmission through the skin can cause result in a painful skin ulcer.
• Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
• Turner-mongolism polysyndrome: A rare syndrome characterized by webbed neck, elbow abnormalities and infantilism.
• Unusual facies, mental retardation, short stature, hemolytic anemia and delayed puberty: A rare syndrome characterized mainly by an unusual facial appearance, mental retardation, short stature, hemolytic anemia and delayed puberty.
• Unusual facies, short webbed neck, mental retardation, short stature: A rare syndrome characterized by an unusual facial appearance, short webbed neck, mental retardation and short stature
• Urban Roger Meyer syndrome: A syndrome which is characterised by genital anomalies, mental retardation, and obesity
• Urioste Martinez-Frias syndrome: A syndrome characterised by multiple abnormalities
• 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).
• Van Allen Myhre syndrome: A syndrome which is characterised by vesicles, celosomia, short neck, microcornea, and dextrocardia.
• Verloes Gillerot Fryns syndrome: A syndrome characterised by multiple congenital abnormalities and mental retardation.
• 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.
• Virus associated hemophagocytic syndrome: A fulminant condition characterised by viral infection causing multiple organ infiltrates of haemophagocytic histiocytes.
• Vitamin K antagonists embryofoetopathy: Abnormalities and deformities that occur in infants due to exposure to oral anticoagulants during the fetal stage.
• Vocal nodules: A harmless growth that develops in the vocal chords usually as a result of vocal abuse or overuse.
• Warthin's tumour: A benign parathyroid tumour
• Waterhouse-Friederichsen syndrome: A rare syndrome that occurs as complication of septicemia (often due to meningococcal or pneumococcal infection) and involves blood coagulation in blood vessels, adrenal gland hemorrhages and ultimately kidney failure.
• Watson syndrome: A rare syndrome characterized by short stature, reduced intelligence, café au lait spots and narrowing of pulmonary valves.
• Webbed neck: occurs in congenital malformations
• Weleber Hecht Bigley syndrome: A syndrome that is characterised by cataract hyperostosis and dislocating patella
• West Nile fever: Mosquito-borne infectious virus.
• West nile encephalitis: A virus that is of the Flavivirus genus that causes the condition West Nile encephalitis
• 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.
• Western/Eastern/California encephalitis: A mosquito born virus transmitted to humans and sometimes horses.
• Whiplash: Neck injury often from a car accident.
• Whiplash Injuries: An injury to the neck when the neck is rapidly forced backward and then forwards or vice versa. It most commonly occurs in vehicle accidents when the vehicle is stopped abruptly or pushed forwards suddenly.
• Whiplash pain: Whiplash is when the soft tissues of the neck are injured by a sudden jerking or "whipping" of the head. This type of motion strains the muscles and ligaments of the neck beyond their normal range of motion.
• Wildervanck syndrome: A rare birth disorder involving hearing loss, fusion of vertebrae and eye movement abnormalities/
• Willems De vries syndrome: A syndrome that is characterised by prominent short limbs, subluxed knees and a cleft palate
• X chromosome, duplication Xq13 1 q21 1: A condition characterised by the duplication of the long arm of chromosome X.
• X chromosome, monosomy Xp22 pter: A condition that is characterised by the occurrence of only one X chromosome in the genotype of an individual
• X chromosome, monosomy Xq28: A condition that is characterised by the occurrence of only one X chromosome in the genotype of an individual
• X chromosome, trisomy 26-28: A condition characterised by the duplication of the long arm of chromosome X.
• X chromosome, trisomy Xp3: A condition characterised by the duplication of the long arm of chromosome X.
• X chromosome, trisomy Xpter Xq13: A condition characterised by the duplication of the long arm of chromosome X.
• X chromosome, trisomy Xq: A condition characterised by the duplication of the long arm of chromosome X.
• X chromosome, trisomy Xq25: A condition characterised by the duplication of the long arm of chromosome X.
• Zunich-Kaye syndrome: A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects.

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