Glossary for Hearing impairment

Medical terms related to Hearing impairment or mentioned in this section include:

• $1q deletion$: 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.
• $22q11.2 deletion syndrome$: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
• $3-$: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
• $3-methylglutaconic aciduria, type 4$: A rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 4 is characterized by symptoms which overlap type 1 and 3.
• ABCD syndrome: A rare inherited condition characterized by albinism, deafness, a black lock of hair and intestinal abnormalities.
• ARTS syndrome: A rare lethal syndrome characterized by deafness, optic atrophy and ataxia.
• Abidi X-linked mental retardation syndrome: A rare genetic disorder characterized by a number of physical abnormalities
• Abruzzo Erickson syndrome: A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness.
• Acoustic neuroma: A rare benign tumor that forms in the hearing canal. Can cause tinnitus, progressive hearing loss, headaches, facial numbness, papilledema, dizziness and an unsteady walk. Speaking and swallowing difficulty can occur in advanced stages. Also called acoustic neurilemoma, acoustic neurinoma and acoustic neurofibroma.
• Acrocephalosyndactyly Syndrome type 5: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
• Acrocephalosyndactyly type 5 (ACPS 5): A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
• Acrofacial dysostosis, Nager type: A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects.
• Acrosphenosyndactylia: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
• Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma: Sudden hearing loss caused by such things as very loud noise (such as an explosion) or surgery.
• Adenoiditis: Infection of the adenoids in the nasal-throat region
• Adhesive abuse: Adhesive abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Adhesives include household glues, rubber cement and model aeroplane glue. These adhesives can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
• Adhesive addiction: Adhesive addiction refers to the compulsive need to abuse adhesives (e.g. sniffing them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Aerosols are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Adhesives includes household glue, rubber cement and model airplane glue.
• Adrenoleukodystrophy, autosomal, neonatal form: A rare inherited disorder involving the adrenal glands, testes and certain parts of the brain (white matter). It is a less severe form of leukodystrophy where an abnormality within the body cells prevents the metabolism of certain fats (long chain fatty acids).
• Aerosol abuse: Aerosol abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Aerosols include air fresheners, hair spray, spray pain and deodorants. These aerosols can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
• Aerosol addiction: Aerosol addiction refers to the compulsive need to abuse aerosol (e.g. sniffing them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Aerosols are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Aerosols includes spray pain, air freshener, deodorants and hair sprays.
• Aging: The medical conditions from getting older.
• Aksu von Stockhausen syndrome: A rare condition observed in a Turkish family and characterized by various head and neck malformations that have resulted from abnormal development of the branchial arches.
• Albers-Schonberg disease - malignant recessive form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
• Albinism ocular late onset sensorineural deafness: A rare inherited condition characterized by a lack of eye pigmentation and deafness that usually starts in middle-age. Severity of symptoms is variable.
• Alopecia mental retardation syndrome: A rare syndrome characterized primarily by a lack of hair and mental retardation.
• Alopecia, anosmia, deafness, hypogonadism syndrome: A rare
• Alpha-mannosidosis type II: A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage. This form of the condition is less severe than type I (infantile form).
• Alport Syndrome: A rare hereditary disorder involving the progressive deterioration of parts of the kidney resulting in chronic kidney disease.
• Alport syndrome - mental retardation - midface hypoplasia - elliptocytosis: A rare syndrome characterized by the association of Alport syndrome, mental retardation, underdeveloped midface and a blood abnormality (elliptocytosis). Alport syndrome is an inherited condition involving progressive kidney damage and hearing loss.
• Alport syndrome with leukocyte inclusions and macrothrombocytopenia: A rare condition characterized by the presence of large blood platelets, kidney inflammation, deafness and abnormal leukocytes. End-stage kidney disease occurs in about a third of patients and tends to occur during the 3rd and 4th decades of life.
• Alport syndrome with macrothrombocytopenia: A rare inherited syndrome characterized by progressive kidney damage and hearing loss as well as macrothrombocytopenia.
• Alstrom syndrome: A rare, hereditary genetic disorder which is progressive. Initial symptoms in infants are usually extreme light sensitivity, wobbling of the eyes and sometimes dilated dilated cardiomyopathy and congestive heart failure. Young children quickly gain weight and become obese and as they get older, multiple organ systems may be affected causing blindness, hearing loss, type 2 diabetes, heart failure, liver disease, urological dysfunction, pulmonary fibrosis and renal failure.
• Amyloidosis, oculoleptomeningeal: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In this particular type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunction, brain hemorrhages and vision impairment.
• Anencephaly: A birth defect where large parts of the brain is missing and the brainstem is malformed.
• Anterior spinal artery syndrome: Neurological symptoms caused by the blockage of the anterior spinal artery. The blockage may be caused by such things as trauma, cancer, thrombosis and arterial disease. Symptoms are determined by the exact location of the blockage.
• Apert syndrome: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
• Arachnoid Cysts: A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the spinal cord and brain. The type and severity of symptoms is determined by the size and location of the cyst.
• Arnold-Chiari malformation type 4: Arnold-Chiari malformation is a rare malformation where the base of the brain enters into the upper spinal canal. Type 4 actually involves a lack of development of a portion of the base of the brain (cerebellum). The prognosis is very poor with death often occurring during infancy.
• Arteriosclerosis: A group of medical conditions which are characterized by the thickening and loss of elasticity of arterial blood vessel walls
• Arthritis - short stature - deafness: A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities.
• Arthrogryposis multiplex with deafness, inguinal hernias, and early death: A rare syndrome characterized multiple joint contractures throughout the body, deafness, inguinal hernias and death usually within months of birth.
• Arthrogryposis-like hand anomaly - sensorineural deafness: A rare disorder characterized by hand contractures and deafness.
• Aspergillus niger infection: A rare fungal infection that often causes a black mould to appear on some fruit and vegetables but may also infect humans through inhalation of fungal spores.
• Ataxia - diabetes - goiter - gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Ataxia deafness reardon type: A rare syndrome observed in a Kuwati family characterized by ataxia, deafness and mental retardation.
• Ataxia, Hereditary, Autosomal Dominant: A group of rare, dominantly inherited neuromuscular disorder involving degeneration of the brain and spinal cord. The range, progression and severity of symptoms can vary quite considerably depending on the genetic defect involved.
• Ataxia-deafness syndrome: A rare syndrome characterized by the association of ataxia with deafness.
• Athabaskan brainstem dysgenesis: A rare neurological disorder caused by abnormal brainstem development and function.
• Athabaskan severe combined immunodeficiency: A severe immunodeficiency disorder found in Navajo and Apache populations.
• Atherosclerosis: A condition which is a form of arteriosclerosis where atheromas are caused by the aggregation of cholesterol and lipids
• Atherosclerosis, premature - deafness - diabetes mellitus - photomyoclonus - nephropathy - degenerative neurologic disease: A rare syndrome characterized mainly by deafness, diabetes, epilepsy, kidney disease and premature hardening of the arteries.
• Atherosclerosis- deafness - diabetes - epilepsy - nephropathy: A rare syndrome characterized mainly by deafness, diabetes, epilepsy, kidney disease and premature hardening of the arteries.
• Auditory Processing Disorder: Failure of the brain to correctly process sound.
• Auditory neuropathy: A hearing disorder caused by impaired nerve signals from the inner part of the ear to the brain.
• Aural atresia - multiple congenital anomalies - mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
• Auralcephalosyndactyly: A very rare syndrome characterized by ear abnormalities, premature fusion of skull bones and syndactyly (fusion of digits).
• Auriculo-condylar syndrome: A rare syndrome characterized by variable ear and jaw abnormalities.
• Autism: Childhood mental condition with social and communication difficulties.
• Autoimmune inner ear disease: A rare disorder where the body's own immune system attacks the inner ear.
• Autosomal Dominant Charcot-Marie-Tooth with hearing loss: A dominantly inherited form of Charcot-Marie-Tooth disease which also involves hearing loss. Charcot-Marie-Tooth disease is a progressive nerve disease that affects the peripheral nerves and hence the muscles primarily in the limbs.
• Axial mesodermal dysplasia spectrum: A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
• BOR syndrome: A rare genetic disorder characterized by hearing loss, kidney malformations and branchial arch anomalies. There are two subtypes with different genetic defect origins.
• BOR-Duane hydrocephalus contiguous gene syndrome: A very rare syndrome characterized primarily by an eye movement disorder (Duane syndrome), abnormal trapezius muscle (runs from neck to shoulder), hydrocephalus and BOR syndrome (branchio-oto-renal syndrome with branchial, eye and kidney abnormalities).
• Bagatelle-Cassidy syndrome: An extremely rare syndrome characterized by a large head, widely spaced eyes, hearing loss, short limbs and developmental delay.
• Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
• Barakat syndrome: A rare condition characterized by deafness, kidney disease and insufficiency parathyroid hormone production.
• Barotitis Media: Middle ear inflammation or bleeding caused by differences between the middle ear air pressure and atmospheric air pressure. Can be caused by such things as scuba diving and symptoms include pain, tinnitus, diminished hearing and vertigo. Also called aerotitis media.
• Barotrauma: Damage to the lungs, ear or sinuses caused by rapid or extreme changes in air pressure.
• Basilar artery migraine: Basilar migraine (BM), also known as Bickerstaff syndrome, consists of headache accompanied by dizziness, ataxia, tinnitus, decreased hearing, nausea and vomiting, dysarthria, diplopia, loss of balance, bilateral paresthesias or paresis, altered consciousness, syncope, and sometimes loss of consciousness.
• Benign Paroxysmal Positional Vertigo: A condition where certain head movements cause extreme dizziness.
• Berk-Tabatznik syndrome: A rare condition characterized by eye and skeletal problems.
• Beta-mannosidosis: A very rare type of inherited glycoprotein storage disease where deficiency of an enzyme called beta-mannosidase results in a build-up of certain sugars (oligosaccharides) which can harm the body.
• Biotinidase deficiency: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes.
• Biotinidase deficiency, late onset: A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes. The severity of symptoms may vary depending on the degree of deficiency. Severe cases can result in metabolic acidosis which can lead to death if treatment isn't given.
• 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.
• Birth Injury: An injury to the mother caused by childbirth
• Birth symptoms: Symptoms related to childbirth.
• Bjornstad syndrome: An inherited condition characterized by twisted hairs and nerve deafness.
• Blastoma: A type of tumor that originates from precursor cells or blasts (immature or embryonic tissue). The symptoms can vary greatly and are determined by the part of the body that is affected. Blastomas can occur in parts of the body such as the brain, liver, kidneys, nervous system, bones and the retina.
• Bone dysplasia - corpus callosum agenesis: A very rare syndrome characterized mainly by abnormal brain development and bone growth abnormalities.
• Bonnier's syndrome: A range of symptoms caused by damage to Dieter's nucleus (the lateral nucleus of the vestibular nerve) or its connections.
• Borud Syndrome: A very rare syndrome characterized by numerous features including hearing and vision problems, heart muscle disease, ataxia and peripheral neuropathy.
• Bosley-Salih-Alorainy syndrome: A rare recessively inherited disorder involving inner and outer ear deformity, eye movement disorder, deafness, cardiovascular malformations and other anomalies. The range and severity of symptoms is variable.
• Boudhina-Yedes-Khiari syndrome: A very rare syndrome characterized primarily by short stature, small head, mental deficiency, seizures, hearing loss and skin lesions.
• Brachmann-De Lange Syndrome: A rare congenital disorder characterized by very small stature, synophrys, thin downturning upper lip and micromelia.
• Brachycephaly - deafness - cataract - mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
• Brachycephaly - deafness - cataract - microstomia - mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
• Brachydactyly - dwarfism - mental retardation: A very rare syndrome characterized by short fingers, very short stature and mental retardation.
• Brain symptoms: Symptoms affecting the brain
• Brain tumor, adult: A growth or tumor that develops in the tissues of the brain in adults. The tumor can be benign or malignant.
• Branchial arch syndrome X-linked: A rare syndrome characterized by a range of abnormalities such as facial anomalies, impaired hearing, short stature, learning disability and branchial arch defects.
• Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and: A rare genetic disorder characterized by branchial defects, tear duct obstruction and pseudocleft of upper lip.
• Branchio-Oculo-Facial Syndrome: A rare genetic disorder characterized by branchial defects, lacrimal duct obstruction and pseudocleft of upper lip.
• Branchio-oto-renal (BOR) syndrome, type 2: A rare genetic disorder characterized by abnormal kidney development and varying degrees of hearing impairment. Type 2 involves a defect on the SIX5 gene on chromosome 19q13.3.
• Branchiootic syndrome: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset.
• Branchiootic syndrome 1: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset. Type 1 is caused by a defect on the EYA1 gene on chromosome 8q13. It is similar to the branchio-oto-renal syndrome except it doesn't involve any kidney abnormalities.
• Branchiootic syndrome 2: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset. Type 2 is caused by a defect chromosome 1q31. It is similar to the branchio-oto-renal syndrome except it doesn't involve any kidney abnormalities.
• Branchiootic syndrome 3: A rare inherited disorder characterized by branchial and ear abnormalities. The hearing loss is variable with respect to severity and age of onset. Type 3 is caused by a defect chromosome 14q23. It is similar to the branchio-oto-renal syndrome except it doesn't involve any kidney abnormalities.
• Bronchopulmonary dysplasia: A condition which is characterized by dysplasia of the brochopulmonary vessels
• Burn-McKeown syndrome: A rare genetic disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and eye, ear and facial anomalies.
• CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
• CMV antenatal infection: A rare condition where a fetus becomes infected with the cytomegalovirus through the mother.
• Camurati Engelmann disease, type 2: A rare disorder (described in two patients) which has similar symptoms to the genetic condition called Camurati Engelmann disease but the genetic defect responsible for type 1 is not present in type 2. Type 2 has additional bone abnormalities which were noted on radiographs. Patients tend to suffer flare-ups of their condition which is accompanied by severe pain which may leave the patient incapacitated. Flare-ups can be triggered or made worse by stress, exhaustion, exercise, growth spurts, standing too long, walking too long, infection, illness, injury, surgery, cold weather and sudden changes in air pressure.
• Camurati-Engelmann Disease: A very rare genetic disease thickening of areas of bone causing pain, weakness and wasting. Usually affects the legs during childhood. Also called diaphyseal dysplasia.
• Canavan disease: Rare genetic degenerative brain disease in infants.
• Canavan leukodystrophy: A rare inherited disorder where a chemical imbalance in the brain leads to spongy degeneration of the central nervous system which results in progressive mental deterioration and associated symptoms.
• Cardioauditory syndrome of Sanchez- Cascos: A rare syndrome characterized mainly by heart and hearing abnormalities. The deafness was present at birth or soon after.
• Cardiomyopathy - hearing loss, type t RNA lysine gene mutation: A rare inherited disorder characterized by heart muscle disease and deafness. The deafness is inherited from the mother and is caused by a genetic defect. Patients may be asymptomatic for a number of years. The rate of progression of the disorder is variable with some patients being asymptomatic until adulthood.
• Cardiomyopathy - hypogonadism - metabolic anomalies: A rare syndrome characterized mainly by heart muscle disease, hypogonadism, blindness, deafness and metabolic anomalies. Puberty was normal despite the hypogonadism.
• Cardiomyopathy diabetes deafness: A rare syndrome characterized by the association of heart muscle disease, diabetes and deafness.
• Cartilaginous - arthritic - ophthalmic - deafness syndrome: A rare syndrome characterized by the association of eye, joint and cartilage disease as well as deafness.
• Cataract deafness hypogonadism: A very rare syndrome characterized mainly by deafness, cataracts and a deficiency of sex hormone production.
• Caudal appendage - deafness: A very rare syndrome characterized mainly by deafness, finger bone abnormalities and a spinal extension giving a tail-like appearance (caudal appendage).
• Cerebellar hypoplasia: A rare brain disorder where a part of the brain (cerebellum) fails to develop fully. The cerebellum is the part of the brain that controls balance and movement.
• Cerebral Palsy: Any brain disorder causing movement disability
• Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome: A rare disorder characterized by abnormal brain development, neurological problems, scaly skin and thickened skin on the palms and soles.
• Cerebrocostomandibular Syndrome: A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other abnormalities.
• Cervicooculoacoustic syndrome: A rare genetic disorder characterized by ocular palsy, congenital perceptive deafness and fusion of the vertebrae in the neck.
• Char syndrome: A very rare genetic disorder characterized mainly by an unusual facial appearance, abnormal little fingers and a heart abnormality.
• Charcot-Marie-Tooth Disorder: Degeneration of limb muscles.
• Charcot-Marie-Tooth disease - deafness: Charcot-Marie-Tooth disease is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Charcot-Marie-Tooth disease and deafness involves the usual CMT symptoms as well as deafness.
• Charcot-Marie-Tooth disease deafness recessive type: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4D is inherited recessively and is caused by a defected in a gene in chromosome 8 and is a severe form of the disease that also involves deafness.
• Charcot-Marie-Tooth disease, Type 1E: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 1E involves the usual CMT symptoms as well as deafness.
• Charcot-Marie-Tooth disease, Type 2J: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 2J has an autosomal dominant inheritance and involves a defect on chromosome 1q22.
• Charcot-Marie-Tooth disease, X-linked: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X2 is an inherited defect of the X chromosome and affects males to a greater degree than females.
• Charcot-Marie-Tooth disease, X-linked recessive, 4: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type 4X is an inherited defect of the X chromosome and affects males to a greater degree than females and also involves mental retardation and deafness.
• Charcot-Marie-Tooth disease, X-linked recessive, 5: CMT is an inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Type X5 is an inherited defect of the X chromosome and affects males to a greater degree than females. In addition to normal CMT symptoms it also involves deafness and eye problems.
• Chemical poisoning - Bromates: Bromate is a chemical used mainly in perming solution neutralizers and in small amounts as a bread preservative. 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 - Butyl Alcohol: Butyl alcohol is a chemical used mainly in solvents and in pharmaceutical manufacturing processes. 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 - Lead-containing Paint: Lead pain contains lead as well as other harmful chemicals. The lead in the pain is toxic (especially to young children) and ingesting fresh or old paint can cause serious symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
• Chemical poisoning - Methanol: Methanol is a chemical used mainly in fuel, paint removers, solvent, antifreeze and in the production process of many other products. 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.
• Chiari Malformation: Protrusion of the brain down the spinal column.
• Chitty Hall Baraitser syndrome: A very rare syndrome characterized by short stature (due to abnormal development of ends of thigh bones), deafness, blocked tear ducts and thing bone abnormalities.
• Choanal atresia - deafness - cardiac defects - dysmorphia: A rare birth disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and facial anomalies.
• Choanal atresia - deafness - cardiac defects - dysmorphism: A rare genetic disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and eye, ear and facial anomalies.
• Cholesteatoma: Uncommon middle ear condition
• Chondrodysplasia, type Nance-Sweeney: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Choroideremia: A rare, inherited, progressive eye disease that causes degeneration of the retina and blindness. The disease usually only affects males.
• Chromosome 1, deletion q21 q25: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, osteoporosis, facial anomalies and hearing loss.
• Chromosome 1, monosomy 1p22 p13: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, short stature, hearing loss and hand defects.
• 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 12, Isochromosome 12p Mosaic: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• 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 13 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 13 rather than the normal two resulting in various abnormalities. Most die within months and there are few survivors after 10 years.
• 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 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, 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 16q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 17 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 17 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 17 trisomy mosaicism: A rare chromosomal disorder where there are three copies of chromosome 17 in some of the body's cells. The type of symptoms and severity is determined by the number of cells that have the three copies. Some cases have no obvious symptoms.
• Chromosome 17, deletion 17q23 q24: 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 17p, partial deletion: A rare chromosomal disorder involving deletion 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 lost genetic material.
• Chromosome 17p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 18 deletion syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing.
• Chromosome 18, deletion 18q23: A very rare syndrome caused by a deletion of a part of the material on chromosome 18 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation. The abnormalities vary from patient to patient.
• Chromosome 18q, partial deletion: A rare chromosomal disorder involving deletion 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 lost 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 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 2, monosomy 2pter p24: A very rare chromosomal disorder where a portion of chromosome 2 is deleted resulting in a range of birth defects and abnormalities.
• 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, microdeletion 22q11: A rare chromosomal disorder where a portion of the long arm of chromosome 22 is deleted.
• Chromosome 22q11 deletion: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
• Chromosome 22q11.2 microduplication: A rare chromosomal disorder where a part of the chromosome 22 genetic material at the q11.2 location is duplicated resulting in various anomalies ranging from mild to severe amongst different patients.
• Chromosome 3, monosomy 3p25: A rare chromosomal disorder characterized by mental retardation, short stature, deafness, extra digits, facial anomalies and various other abnormalities.
• 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 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 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
• Chronic Myeloproliferative Disorders: A group of blood cancers where excessive numbers of blood cells are made by overactive or cancerous bone marrow. The number of excess blood cells tends to grow slowly. Examples of such disorders includes chronic myelogenous leukemia, polycythemia vera and essential thrombocythemia. The symptoms are determined by which particular blood cancer is involved.
• Ciliary dyskinesia, due to transposition of ciliary microtubules: A very rare disorder where the cilia fail to move adequately due to abnormal cilia structure. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
• Classic childhood ALD: Classic severe form of ALD in boys.
• Cleft lip palate - deafness - sacral lipoma: A very rare syndrome characterized mainly by an opening in the palate and lip, deafness and a lipoma in the end portion of the spine.
• Cleft palate: This when there is a congenital fissure of the median line of the palate.
• Cleft palate - coloboma - deafness: A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness.
• Cleft palate - stapes fixation - oligodontia: A very rare syndrome characterized by an opening in the roof of the mouth (cleft palate, the absence of six or more permanent teeth and hearing loss due to an inner ear abnormality (stapes fixation).
• Cleft palate colobomata radial synostosis deafness: A very rare syndrome characterized mainly by a cleft palate, fused forearm bone, deafness and colobomata.
• Cochleosaccular degeneration of the inner ear and progressive cataracts: A very rare syndrome characterized by cataracts and progressive damage of certain inner ear structures (cochlea and saccule) which results in progressive deafness and vision problems.
• Coenzyme Q 10 (CoQ10), deficiency: A rare inherited disorder characterized by the deficiency of Coenzyme Q 10. The range and severity of symptoms is variable.
• Coenzyme Q cytochrome c reductase deficiency of: A rare genetic defect where an enzyme deficiency (CoQ-Cytochrome C reductase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as cardiomyopathy, fatal infant conditions and Leber's myopathy.
• Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
• Cogan's syndrome: A disorder primarily involving eye inflammation and hearing impairment and dizziness. Complete deafness usually occurs within a couple of years. The disorder is caused by inflammation of the arteries in the ear. Sometimes arteries in other parts of the body may also be affected e.g. skin, kidneys and other organs.
• Coleman Randall syndrome: A rare condition (one reported case) characterized by deafness, underdeveloped gonads, pili torti and a deficiency of growth and luteinizing hormone.
• Collagenopathy, type 2 alpha 1: Collagenopathy, type 2 alpha 1refers to a wide range of conditions that can result from problems with cartilage collagen tissue due to a defect in the COL2A1 gene. Defects in the COL2A1 gene result in defective or reduced collagen production which in turn affects the development of connective tissues including bones. There are a wide range of possible conditions and symptoms. Some of the conditions include: spondyloepiphyseal dysplasia congenita, Stickler Syndrome, hypochondrogenesis and Kneist dysplasia.
• Colobomatous microphthalmia - heart disease - hearing loss: A very rare syndrome characterized by small eyes, heart disease and hearing loss.
• Common symptoms: The most common symptoms
• Conductive deafness: Any hearing loss or impairment caused by a defect in part of the ear that conducts sound.
• Conductive deafness - malformed external ear: A rare disorder characterized by hearing loss and external ear malformations.
• Conductive hearing loss: Hearing loss due to a defect in the external auditory canal or middle ear.
• Congenital Disorders of Glycosylation Type Ia: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
• Congenital Toxoplasmosis: Fetal infection with toxoplasmosis.
• Congenital cytomegalovirus: Fetal infection with cytomegalovirus.
• Congenital disorder of glycosylation type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
• Congenital disorder of glycosylation type 1G: 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 IG is caused by a defect on chromosome 22q13.33 and involves the gene for a particular enzyme (dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase).
• Connexin 26 anomaly: A genetic mutation that causes congenital deafness.
• Corneal anesthesia deafness intellectual deficit: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
• Corneal anesthesia deafness mental retardation: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
• Corneal dystrophy and perceptive deafness: A very rare syndrome characterized by eye problems and deafness. Hearing starts to deteriorate during the 20's and 30's.
• Corneal hypesthesia deafness intellectual deficit: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
• Cornel syndrome: A very rare disorder observed in only a few families. The condition is characterized by deafness, heart problems and droopy eyelids
• Cornelia de Lange Syndrome: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. The severity of symptoms is variable.
• 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.
• Corpus callosum agenesis - blepharophimosis - Robin sequence: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
• Corpus callosum, agenesis of, blepharophimosis Robin type: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
• Cortical hyperostosis-syndactyly: A rare genetic disorder characterized by webbed fingers and thickening and overgrowth of bones.
• Coxoauricular syndrome: A very rare syndrome characterized by skeletal and ear abnormalities, short stature and deafness.
• Crandall syndrome: A very rare syndrome characterized by twisted hair, hearing loss and sex hormone deficiency.
• Craniodiaphyseal dysplasia: A very rare bone disorder where excess calcium is deposited mainly in the skull bones which can result in compression of various nerves in the skull and even the brain.
• Craniofacial dysostosis type 1: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include poor vision, hypoplasia of maxilla an impaired hearing.
• Craniometaphyseal dysplasia, autosomal recessive type: A rare genetic disorder characterized by head and facial abnormalities as well as mild limb abnormalities. It is a milder form of the disease than the autosomal dominant type.
• Craniosynostosis Maroteaux Fonfria type: A rare disorder which is similar to a condition called Apert syndrome but also involves extra fingers and toes. Apert syndrome is characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally
• Cushing's symphalangism: A rare syndrome characterized by deafness and the fusion of joints in the middle of fingers and toes as well as fusion of hand and foot bones.
• Cytomegalovirus - Teratogenic Agent: There is strong evidence to indicate that the development of Cytomegalovirus 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.
• DIDMOAD Syndrome, Mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
• DOC 12 (Neutral Lipid Storage Type): A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
• Darvocet overdose: Darvocet is a prescription drug mainly used to treat pain. Excessive doses of the drug can result in various symptoms and even death in severe cases.
• Davenport-Donlan syndrome: A very rare syndrome characterized mainly by deafness, white hair, contractures and papillomas.
• De Grouchy Syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• De Sanctis-Cacchione syndrome: A rare genetic ectodermal disorder characterized by sunlight sensitivity, skin atrophy and pigmentation and skin tumors as well asneurologic involvement.
• Deafness: Partial or complete hearing loss
• Deafness - Opticoacoustic nerve atrophy - dementia: A rare genetic disorder characterized by degeneration of the optic nerve (causing impaired vision), deafness due to nerve damage and dementia due to calcification of the central nervous system. Death usually results by about the age of 40 with extensive calcification of all parts of the nervous system.
• Deafness - cataracts - skeletal anomalies: A rare disorder characterized by deafness, cataracts and skeletal abnormalities as well as other anomalies.
• Deafness - epiphyseal dysplasia - short stature: A very rare syndrome characterized by short stature (due to abnormal development of ends of thigh bones), deafness, blocked tear ducts and thing bone 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 - hypospadias - metacarpal and metatarsal synostosis: A very rare syndrome characterized mainly by deafness, penis abnormalities and bone anomalies in the foot and hands.
• Deafness - lymphoedema - leukemia: A rare syndrome characterized by deafness, early-onset leukemia and lymphoedema in the lower legs.
• Deafness - nephritis - anorectal malformation: A very rare syndrome characterized by kidney disease, deafness and malformations of the anus and rectum.
• Deafness - onychodystrophy - osteodystrophy - mental retardation: A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R).
• Deafness - pili torti -hypogonadism: An inherited condition characterized by twisted hairs, hypogonadism and nerve deafness.
• Deafness - skeletal dysplasia - lip granuloma: A very rare syndrome characterized mainly by deafness, skeletal abnormalities, mental retardation and full lips.
• Deafness hyperuricemia neurologic ataxia: A rare inherited disorder characterized by a high level of uric acid in the blood, renal insufficiency, ataxia and deafness.
• Deafness hypogonadism syndrome: A rare condition characterized by the combination of hypogonadism and deafness.
• Deafness mesenteric diverticula of small bowel neuropathy: A rare genetic condition characterized by deafness, gastrointestinal abnormalities and neuropathy.
• Deafness mixed with perilymphatic Gusher, X-linked: An inherited inner ear defect (stapes fixation) which causes progressive hearing loss. Perilymphatic gusher is a complication that can be associated with surgery to correct the inner ear defect. The severity and rate of progression of the hearing loss is variable. The hearing loss may be mixed or sensorineural.
• Deafness neurosensory - pituitary dwarfism: A very rare syndrome characterized by deafness and deficient sex hormone and pituitary hormone activity.
• Deafness onychodystrophy dominant form: A rare dominantly inherited disorder characterized by deafness from birth, deformed nails and
• Deafness peripheral - neuropathy - arterial disease: A very rare syndrome characterized mainly by artery disease, deafness and peripheral neuropathy.
• Deafness progressive cataract autosomal dominant: A rare dominantly inherited disorder characterized by deafness and progressive cataracts. The deafness is caused by degeneration of a part of the inner ear . The hearing loss can start in the 3rd decade of life and cataracts occur before the 5th decade.
• Deafness, Conductive with Stapes Fixation: An inherited inner ear defect (stapes fixation) which causes progressive hearing loss. A perilymphatic gusher can occur as a complication of surgery to correct the inner ear defect. The severity and rate of progression of the hearing loss is variable.
• Deafness, X-Linked 1: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers. The defective gene (DFN2) occurs on chromosome Xq22.
• Deafness, X-Linked 2: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers. Surgery to correct the underlying inner ear defect can lead to the development of a perilymphatic gusher which can further impair hearing. Type 2 is linked to a defect on chromosome Xq21.1.
• Deafness, X-Linked 2, Sensorineural Congenital: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers. The defective gene (DFN2) occurs on chromosome Xq22.
• Deafness, X-Linked 3: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers. Surgery to correct the underlying inner ear defect can lead to the development of a perilymphatic gusher which can further impair hearing. Type 3 is linked to a defect on chromosome Xp21.2.
• Deafness, X-linked 5: A form of hearing loss inherited in a X-linked recessive manner.
• Deafness, X-linked, DFN: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers.
• Deafness, Y-linked 1: Hearing impairment inherited in a Y-linked manner - male-to-male transmission. There are no other abnormalities associated. The condition was observed in a number of generations of a Chinese family.
• Deafness, autosomal dominant nonsyndromic sensorineural 1: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 1 involves a defect of the Drosophila diaphanous gene on chromosome 5q31.
• Deafness, autosomal dominant nonsyndromic sensorineural 10: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 10 involves a defect on chromosome 6q23.
• Deafness, autosomal dominant nonsyndromic sensorineural 11: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 11 involves a defect of myosin VIIA gene on chromosome 11q13.5.
• Deafness, autosomal dominant nonsyndromic sensorineural 12: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 12 involves a defect of alpha-tectorin gene on chromosome 11q22-q24.
• Deafness, autosomal dominant nonsyndromic sensorineural 13: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 13 involves a defect of COL11A2 gene on chromosome 6p21.3.
• Deafness, autosomal dominant nonsyndromic sensorineural 15: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 15 involves a defect of POU4F3 gene on chromosome 5q31.
• Deafness, autosomal dominant nonsyndromic sensorineural 17: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 17 involves a defect in the MYH9 gene on chromosome 22q11.2.
• Deafness, autosomal dominant nonsyndromic sensorineural 18: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 18 involves a defect on chromosome 3q22.
• Deafness, autosomal dominant nonsyndromic sensorineural 2: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 2 involves a defect on chromosome 1p34,1p35.1.
• Deafness, autosomal dominant nonsyndromic sensorineural 21: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 21 involves a defect on chromosome 6p21.3.
• Deafness, autosomal dominant nonsyndromic sensorineural 22: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 22 involves a defect in the myosin VI gene on chromosome 6q13.
• Deafness, autosomal dominant nonsyndromic sensorineural 23: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition.
• Deafness, autosomal dominant nonsyndromic sensorineural 25: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 25 involves a defect on chromosome 12q21-q24.
• Deafness, autosomal dominant nonsyndromic sensorineural 28: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 28 involves a defect of TFCP2L3 gene on chromosome 8q22.
• Deafness, autosomal dominant nonsyndromic sensorineural 3: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 3 involves a defect in the connexin-26 gene on chromosome 13q11-q12.
• Deafness, autosomal dominant nonsyndromic sensorineural 30: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 30 involves a defect on chromosome 15q25-q26.
• Deafness, autosomal dominant nonsyndromic sensorineural 31: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 31 involves a defect on chromosome 6p21.3.
• Deafness, autosomal dominant nonsyndromic sensorineural 36: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 36 involves a defect of transmembrane cochlear-expressed gene 1 on chromosome 9q13-q21.
• Deafness, autosomal dominant nonsyndromic sensorineural 4: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 4 involves a defect on chromosome 19q13.33.
• Deafness, autosomal dominant nonsyndromic sensorineural 41: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 41 involves a defect on chromosome 12q24.32-qter.
• Deafness, autosomal dominant nonsyndromic sensorineural 43: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 43 involves a defect on chromosome 2p12.
• Deafness, autosomal dominant nonsyndromic sensorineural 44: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 44 involves a defect of CCDC50 gene on chromosome 3q28.
• Deafness, autosomal dominant nonsyndromic sensorineural 47: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 47 involves a defect on chromosome 9p22-p21.
• Deafness, autosomal dominant nonsyndromic sensorineural 48: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 48 involves a defect on chromosome 12q13-q15. The hearing impairment was usually moderate to severe but rarely profound.
• Deafness, autosomal dominant nonsyndromic sensorineural 49: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 49 involves a defect on chromosome 1q21-q23.
• Deafness, autosomal dominant nonsyndromic sensorineural 5: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 5 involves a defect on chromosome 7p15.
• Deafness, autosomal dominant nonsyndromic sensorineural 53: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 53 involves a defect on chromosome 14q11.2-q12.
• Deafness, autosomal dominant nonsyndromic sensorineural 6: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 6 involves a defect on chromosome 4p16.1.
• Deafness, autosomal dominant nonsyndromic sensorineural 7: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 7 involves a defect on chromosome 1q21-q23.
• Deafness, autosomal dominant nonsyndromic sensorineural 8: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 8 involves a defect of alpha-tectorin gene on chromosome 11q22-q24.
• Deafness, autosomal dominant nonsyndromic sensorineural 9: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 11 involves a defect of the cochlin gene on chromosome 14q12-q13.
• Deafness, autosomal recessive 1: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 1 involves a defect on chromosome 13q11-q12.
• Deafness, autosomal recessive 10: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 10 involves a defect of the TMPRSS3 gene on chromosome 21q22.3.
• Deafness, autosomal recessive 12: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 12 involves a defect of the cadherin-23 gene on chromosome 10q21-q22, 3p26-p25.
• Deafness, autosomal recessive 13: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 13 involves a defect on chromosome 7q34-q36.
• Deafness, autosomal recessive 14: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 14 involves a defect on chromosome 7q31.
• Deafness, autosomal recessive 15: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 15 involves a defect on chromosome 3q.
• Deafness, autosomal recessive 16: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 16 involves a defect on chromosome 15q15.
• Deafness, autosomal recessive 17: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 17 involves a defect on chromosome 7q31.
• Deafness, autosomal recessive 18: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 18 involves a defect of the harmonin gene on chromosome 11p15.1.
• Deafness, autosomal recessive 2: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 2 involves a defect on chromosome 11q13.5.
• Deafness, autosomal recessive 20: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 20 involves a defect on chromosome 11q25-qter.
• Deafness, autosomal recessive 21: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 21 involves a defect on the alpha-tectorin gene on chromosome 11q22-q24.
• Deafness, autosomal recessive 22: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 22 involves a defect of the otoancorin gene on chromosome 16p12.2.
• Deafness, autosomal recessive 23: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 23 involves a defect on chromosome 10q21-q22.
• Deafness, autosomal recessive 24: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 24 involves a defect of the radixin gene.
• Deafness, autosomal recessive 26: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 26 involves a defect on chromosome 4q31.
• Deafness, autosomal recessive 27: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 27 involves a defect on chromosome 2q23-q31.
• Deafness, autosomal recessive 28: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 28 involves a defect of the TRIOBP gene on chromosome 22q13.1.
• Deafness, autosomal recessive 29: Recessively inherited hearing loss involving a defect on chromosome 21q22.3.
• Deafness, autosomal recessive 3: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 3 involves a defect of the unconventional myosin XVA gene on chromosome 17p11.2.
• Deafness, autosomal recessive 30: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 30 involves a defect of the myosin IIIA gene on chromosome 10p11.1.
• Deafness, autosomal recessive 31: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 31 involves a defect on chromosome 9q32-q34.
• Deafness, autosomal recessive 32: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 32 involves a defect on chromosome 1p13.3-22.1.
• Deafness, autosomal recessive 33: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 33 involves a defect on chromosome 9q34.3.
• Deafness, autosomal recessive 35: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 35 involves a defect on chromosome 14q24.1-14q24.3.
• Deafness, autosomal recessive 36: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 36 involves a defect of the espin gene on chromosome 1p36.3-p36.1.
• Deafness, autosomal recessive 37: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 37 involves a defect of the myosin VI gene on chromosome 6q13.
• Deafness, autosomal recessive 38: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 38 involves a defect on chromosome 6q26-q27.
• Deafness, autosomal recessive 39: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 39 involves a defect on chromosome 7q11.22-q21.12.
• Deafness, autosomal recessive 40: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 40 involves a defect on chromosome 22q11.21-q12.1.
• Deafness, autosomal recessive 42: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 42 involves a defect on chromosome 3q13.31-q22.3.
• Deafness, autosomal recessive 44: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 44 involves a defect on chromosome 7p14.1-p11.22.
• Deafness, autosomal recessive 46: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 46 involves a defect on chromosome 18p11.32-p11.31.
• Deafness, autosomal recessive 47: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 47 involves a defect on chromosome 2p25.1-p24.3.
• Deafness, autosomal recessive 48: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 48 involves a defect on chromosome 15q23-q25.1.
• Deafness, autosomal recessive 49: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 49 involves a defect of the tricellulin gene on chromosome 5q13.1.
• Deafness, autosomal recessive 5: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 5 involves a defect on chromosome 14q12.
• Deafness, autosomal recessive 53: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 55 involves a defect on chromosome 4q12-q13.2.
• Deafness, autosomal recessive 59: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 59 involves a defect of the pejvakin gene on chromosome 2q31.1-q31.3.
• Deafness, autosomal recessive 6: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 6 involves a defect of the transmembrane inner ear-expressed gene on chromosome 3p21.
• Deafness, autosomal recessive 62: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 62 involves a defect on chromosome 12p13.2-p11.23.
• Deafness, autosomal recessive 65: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 65 involves a defect on chromosome 20q13.2-q13.3.
• Deafness, autosomal recessive 66: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 66 involves a defect on chromosome 6p22.3-p21.2.
• Deafness, autosomal recessive 67: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 67 involves a defect on chromosome 16p11.2.
• Deafness, autosomal recessive 68: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 68 involves a defect on chromosome 19p13.2.
• Deafness, autosomal recessive 7: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 7 involves a defect of the transmembrane chochlear-expressed gene 1 on chromosome 9q13-q21.
• Deafness, autosomal recessive 72: Recessively inherited hearing loss involving a defect on chromosome 19p13.3.
• Deafness, autosomal recessive 8: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 8 involves a defect of the TMPRSS3 gene on chromosome 21q22.3.
• Deafness, autosomal recessive 9: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 9 involves a defect of the otoferlin gene on chromosome 2p23-p22.
• Deafness, congenital neurosensory, autosomal recessive 10: Recessively inherited hearing loss involving a defect on chromosome 21p22.3.
• Deafness, congenital onychodystrophy, recessive form: A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R).
• Deafness, genetic, nonsyndromic: An inherited form of deafness that is not associated with any other abnormalities. The degree of hearing loss can vary depending on the origin of the genetic defect.
• Deafness, isolated, due to mitochondrial transmission: Inherited hearing loss that occurs without any other symptoms and is caused by minute changes in mitochondrial DNA.
• Deafness, neurosensory nonsyndromic recessive, DFN: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The degree of deafness is usually severe and onset is variable but is generally well within the first decade.
• Deafness, vitiligo, achalasia: A rare disorder characterized by deafness, achalasia (difficulty swallowing) and patches of reduced pigmentation in the skin (vitiligo).
• Deafness-mental retardation, Martin-Probst type: A rare disorder characterized mainly by deafness and mental retardation.
• Deafness-tubular acidosis-anaemia: A rare disorder characterized mainly by abnormal progressive calcification of the spinal cord and brain, kidney anomaly, anemia and deafness.
• Del (1) (pter-p36.3) mosaicism: A very rare chromosomal disorder where the end portion of the short arm of chromosome one is missing in some body cells. The type and severity of symptoms is variable.
• Del(1) (23-q25): A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing.
• Del(1) (p22.3-p13.3): A very rare chromosomal disorder where a portion of the short arm (p22.3-p13.3) of chromosome one is missing. The type and severity of symptoms is variable.
• Del(1) (pter-p36.2): A very rare chromosomal disorder where the end portion of the short arm of chromosome one is missing. The type and severity of symptoms is variable.
• Deletion 11q: A very rare genetic disorder characterized by the deletion of genetic material from the long arm (q) of chromosome 11 - the genetic material occurs only once in body cells instead of the normal two. The type and severity of symptoms may vary considerably depending on the exact location and size of the deleted genetic material.
• 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 18q: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Deletion 22q11: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
• Dementia, familial Danish: A rare inherited form of dementia caused by the deposit of abnormal substances in the brain, spinal cord and retina and the degeneration of brain tissue. Deafness and cataracts usually started in the 20's with severe deafness occurring by the age of 45. Movement problems usually started after the age of 40 with death occurring in the 5th or 6th decade.
• Demyelinating disorder: Any condition that is characterised by the destruction of the myelin sheaths of the nerves
• Dentinogenesis imperfecta - short stature - hearing loss - mental retardation: A rare syndrome characterized by teeth anomalies (dentinogenesis imperfecta), short stature, hearing loss and mental retardation.
• Dextrocardia-bronchiectasis-sinusitis: A genetic disorder characterized by sinusitis, bronchiectasis and situs inversus.
• Diabetes: Symptoms similar to those of diabetes
• Diabetes insipidus, diabetes mellitus, optic atrophy: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
• Diabetes insipidus, diabetes mellitus, optic atrophy, deafness, mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
• Diabetes-like symptoms: Symptoms similar to those of diabetes
• Diarrhea chronic with villous atrophy: A very rare metabolic disorder which causes abnormalities in the intestinal lining which results in chronic diarrhea. The reported patients died at 12 years of age and suffered a variety of other problems.
• Diffuse leiomyomatosis with Alport syndrome: A very rare syndrome characterized mainly by multiple tumors (in the esophagus, female genitals, trachea and bronchus) and Alport syndrome which involves progressive kidney dysfunction.
• Disorder of Cornification 12 (Neutral Lipid Storage Type): A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
• Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
• Drug-resistant Streptococcus Pneumoniae Disease: Streptococcal respiratory infection resistant to antibiotics
• Duane-radial ray syndrome: A very rare inherited disorder characterized by impaired control of eye movement and bone abnormalities in the hands and feet.
• Dwarfism - deafness - retinitis pigmentosa: A very rare disorder characterized by deafness, dwarfism and an eye disorder.
• EEC syndrome: A rare genetic disorder characterized by absence of fingers and toes, ectodermal dysplasia and cleft lip or cleft palate.
• Ear conditions: Any condition that affects the ear
• Ear discharge: Discharge of fluid from the ear
• Ear foreign body: Having a "foreign body" stuck inside the ear
• Ear infection: Any infection of the ear (called otitis)
• Ear infection (infant): An infection that affects the ear
• Ear sounds: Hearing ringing, buzzing, or noises in the ears
• Ear symptoms: Symptoms affecting the ear or hearing
• Ear wax: Buildup of wax (cerumen) inside the ear canal
• Eccentrochondrodysplasia: 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.
• Ectodermal dysplasia: A group of rare inherited conditions which affect the ectodermal skin layer which includes the skin, hair, teeth and nails.
• Ectodermal dysplasia - neurosensory deafness: A rare syndrome characterized by nerve deafness, abnormally bent fifth fingers, ectodermal dysplasia and scoliosis.
• Ectrodactyly - Ectodermal Dysplasia - Cleft Lip/Palate Syndrome, Type 1: EEC (Ectrodactyly, ectodermal dysplasia, cleft lip/palate) is a rare inherited condition characterized by split hand and foot deformities of variable severity, cleft lip or palate and teeth and hair anomalies. There are two main types of EEC which differ in the origin of the genetic defect. Type 1 is caused by a defect on chromosome 7q11. The severity and type of symptoms and deformities is highly variable.
• Ectrodactyly - Ectodermal Dysplasia - Cleft Lip/Palate Syndrome, Type 3: EEC (Ectrodactyly, ectodermal dysplasia, cleft lip/palate) is a rare inherited condition characterized by split hand and foot deformities of variable severity, cleft lip or palate and teeth and hair anomalies. There are two main types of EEC which differ in the origin of the genetic defect. Type 3 is caused by a defect on chromosome 3q27. The severity and type of symptoms and deformities is highly variable.
• Edwards-Patton-Dilly syndrome: A rare syndrome characterized mainly by deafness, kidney disease and increased parathyroid activity.
• Ehlers-Danlos syndrome, Beasley Cohen type: A rare condition where mental retardation, deafness and cataracts are associated with a connective tissue disorder called Ehlers-Danlos syndrome.
• 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.
• Enchondromatosis-dwarfism-deafness: A rare syndrome characterized mainly by short limbs, short stature, asymmetrical limbs, deafness and abnormal bone development.
• Endolymphatic sac tumors (ELST's) in Von Hippel Lindau (VHL) disease: A tumor that develops in the endolymph sacs which are structures inside the ear. These tumors occur predominantly in patients suffering from Von Hippel Landau disease. The tumors don't metastasize.
• Engelhard-Yatziv syndrome: A rare syndrome characterized mainly by droopy eyelids, small head and finger and toe abnormalities.
• Epilepsy: Paroxysmal transient disturbances of brain function that may manifest as loss of consciousness, abnormal motor phenomena
• Epilepsy, partial, familial: A form of epilepsy that tends to run in families and is linked to damage or abnormalities in a specific part of the brain. Often sensory disturbances accompany or precede the seizures.
• Epiphyseal dysplasia - hearing loss - dysmorphism: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
• Epiphyseal dysplasia dysmorphism camptodactyly: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
• Epstein (C.J.) syndrome: A rare condition characterized by deafness, kidney inflammation, a reduced number of normal blood platelets needed for clotting and the presence of large blood platelets.
• Epstein's Syndrome: A syndrome characterized by the association of kidney disease, deafness and a blood disorder.
• Ermine phenotype: A very rare syndrome characterized by pigmentation abnormalities as well as deafness.
• FG syndrome 1: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 1, the genetic defect is located on chromosome Xq12-q21.31.
• FG syndrome 2: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 2, the genetic defect is located on chromosome Xq28.
• FG syndrome 3: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 3, the genetic defect is located on chromosome Xp22.3.
• FG syndrome 4: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 4, the genetic defect is located on chromosome Xp11.4-p11.3.
• FG syndrome 5: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 5, the genetic defect is located on chromosome Xq22.3.
• Fabry's Disease: An inherited metabolic disorder where phospholipids are deposited mostly in the blood vessels as well as other tissues and organs. Symptoms include skin lesions, small red spots on the abdomen, thighs and scrotum, fever, peripheral edema, hypertension and renal failure. Also called angiokeratoma corporis diffusion, Anderson's syndrome, Anderson-Fabry disease, Morbus Anderson-Fabry, Ruiter-Pompen syndrome or Sweeley-Klionsky disease.
• Face symptoms: Symptoms affecting the face
• Facial dysmorphism - intellectual deficit - short stature - hearing loss: A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features.
• Facio-auriculo-radial dysplasia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
• Facioscapulohumeral muscular dystrophy 1a: An inherited muscle disease involving slowly progressive muscle weakness. The condition is characterized by the early involvement of facial and shoulder muscles. Muscle weakness then spreads to the pelvis and legs. The onset, severity and rate of progression is variable.
• Facioskeletalgenital syndrome, Rippberger type: A rare syndrome characterized by facial, skeletal and genital abnormalities.
• Familial Granulomatosis, Blau type: A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions.
• Familial Treacher Collins syndrome: Treacher Collins syndrome is a rare inherited disorder characterized by down-slanting eye slits, malformed external ear, abnormal lower eyelid and underdeveloped cheeks. In the familial form, the condition tends to occur in a number of people within a family. The severity of the condition is variable.
• Familial deafness: Deafness that tends to run in families (familial) and has genetic origins.
• Familial isolated deficiency of vitamin E: A rare neurodegenerative disorder caused by an inherited condition where the body is unable to absorb vitamin E from the food consumed.
• Familial, Systemic, Juvenile Granulomatosis: A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions.
• Fanconi syndrome: Fanconi syndrome that occurs secondary to the accumulation of crystals of light-chain immunoglobulin molecules in the kidney tubules which affects their functioning.
• Fanconi's anemia: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
• Fara-Chlupackova syndrome: A rare syndrome characterized mainly by ear, face and neck abnormalities.
• Fechtner syndrome: A rare condition characterized by the presence of large blood platelets, kidney inflammation, deafness and abnormal leukocytes.
• Feigenbaum-Bergeron-Richardson syndrome: A rare syndrome characterized mainly by deafness, diabetes, epilepsy, kidney disease and premature hardening of the arteries.
• Fetal alcohol syndrome: A condition which occurs in a new born fetus and is caused by the mother consuming excess alcohol during her pregnancy
• Fetal methylmercury syndrome: Fetal exposure to methyl mercury which can pass from the mother to the fetus through the placenta.
• Fetal warfarin syndrome: A rare disorder caused by fetal exposure to warfarin (anticoagulant) and resulting in physical, neurological and mental abnormalities.
• Fever: Raised body temperature usually with other symptoms.
• Fine-Lubinsky syndrome: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
• Fitzsimmons-Walson-Mellor syndrome: A very rare syndrome characterized mainly by spastic paraplegia, progressive kidney disease and deafness.
• Forney Robinson Pascoe syndrome: A rare condition characterized by skeletal abnormalities, deafness and mitral regurgitation.
• Fountain Syndrome: A very rare inherited disorder involving mental retardation, sensorineural deafness, skeletal defects, coarse facial features and full lips.
• Froster-Iskenius-Waterson syndrome: A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles.
• 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.
• GM2-gangliosidosis, AB variant: A very rare inherited disorder where the brain and spinal cord nerve cells (central nervous system) are progressively destroyed.
• Galactosemia III: A rare inherited disorder where deficiency of a particular enzyme (UDP-Galactose-4-epimerase) prevents the metabolism of galactose which is a sugar component of milk. The condition may vary from mild to severe.
• Glomus tympanicum: A rare, usually benign tumor found behind the ear drum. The tumor develops from glomus cells which are located along blood vessels involved in automatic body activities such as regulation of blood pressure and blood flow.
• Glossopalatine ankylosis - micrognathia - ear anomalies: A very rare syndrome characterized mainly by a small jaw, ear abnormalities and abnormal attachment of back of tongue (glossopalatine ankylosis).
• Glue ear: A condition which affects the ear and is characterized by a chronic accumulation of the fluid leading to a loss of hearing
• Goldberg syndrome: A rare lysosomal storage disorder characterized by an enzyme deficiency (neuraminidase and beta-galactosidase) which results in a build-up of glycoproteins in the urine. There are three main subtypes: infantile, juvenile and adult forms. The early infantile form is the most severe and often results in death during infancy.
• Goldberg-Shprintzen megacolon syndrome: A rare malformations syndrome characterized by abnormalities such as small head, eye problems, poor muscle tone, hearing problems and Hirschsprung megacolon where defective intestinal muscles are unable to move stool efficiently through the intestines.
• Goldenhar disease: A rare disorder characterized by numerous, often asymmetric, defects involving the face, ear, mouth and vertebrae.
• Groll-Hirschowitz syndrome: A rare genetic condition characterized by deafness, gastrointestinal abnormalities and neuropathy.
• Growth delay due to insulin-like growth factor I deficiency: A rare disorder where the deficiency of a growth factor (IGF-1) causes growth delay, deafness and mental retardation.
• Gustavson syndrome: A very rare condition characterized by features such as mental retardation, spasticity, seizures and eye and ear problems.
• Hagemoser Weinstein Bresnick syndrome: A very rare syndrome characterized mainly by deafness, neuropathy and vision problems.
• Hajdu-Cheney Syndrome: A rare genetic disorder characterized by early tooth loss, relaxed joints, small stature and bone abnormalities.
• Head injury: Any injury that occurs to the head
• Head symptoms: Symptoms affecting the head or brain
• Hearing Impairment: Impaired ability to hear.
• Hearing disturbance:
• Hearing impairment: Impaired ability to hear.
• Hearing loss: The loss of part or all of ones ability to hear
• Hearing symptoms: Problems with the ear's hearing ability
• Hemifacial microsomia macrodactyly: A rare syndrome characterized by enlargement of some fingers as well as the underdevelopment of the lower half of one side of the face.
• Hemiplegic migraine, familial: A rare inherited form of migraine that characteristically causes temporary paralysis on one side of the body.
• Herbal Agent overdose - Kava: Kava can be used as a herbal agent to treat anxiety, restlessness, stress and sleeping problems due to anxiety. The herbal agent contains chemicals including alpha-pyrone which can cause various symptoms if excessive quantities are taken.
• Hereditary Motor and Sensory Neuropathy with Deafness, Mental Retardation and Absence of Large Myelinated Fibers: An inherited condition reported in three brothers involving mental retardation, deafness and nerve and muscle problems. The hearing loss is severe and occurs in the first year of life.
• Hereditary hearing disorder: Genetic disorders that affects hearing and is passed from parents to offspring.
• Hereditary hearing loss: Hearing loss that is inherited or passed on from parents to children as a result of a genetic defect.
• Herpes zoster oticus: Facial and auditory effects of herpes zoster
• Hersh-Podruch-Weisskopk syndrome: A very rare syndrome characterized mainly by progressive retinal damage, mental retardation and deafness.
• Hirschsprung disease - deafness - polydactyly: A very rare syndrome characterized mainly by extra fingers, deafness and an intestinal disorder called Hirschsprung disease where waste material fails to move effectively through the intestinal system resulting in constipation.
• Histidinuria, renal tubular defect: A very rare syndrome where a kidney defect causes high levels of histidine in the urine.
• Human HOXA1 Syndromes: Human HOXA1 syndromes are very rare conditions caused by genetic defects involving the HOXA1 gene. The severity of the condition is highly variable depending on the extent of the defect and inheritance pattern. The most severe form is Bosley-Salih-Alorainy syndrome which involves a homozygous mutation. Other manifestations of the genetic defect are Athabaskan Brainstem Dysgenesis syndrome and Navajo Brainstem syndrome. The gene is involved in the development of the cardiovascular system, inner ear and the hindbrain so defects tend to involve mainly these parts of the body.
• Hunter-MacDonald syndrome: A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas.
• Hunter-Mcdonald syndrome: A rare syndrome characterized mainly be short stature, characteristic facial appearance and a predisposition for developing brain tumors.
• Hydranencephaly: A very rare condition where fluid replaces a portion of the brain.
• Hydrocephalus: A condition which is characterized by marked dilatation of the cerebral ventricles
• Hypertelorism - esophageal abnormalities - hypospadias: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
• Hypertelorism with esophageal abnormality and hypospadias: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
• Hypobetalipoproteinaemia - ataxia - hearing loss: A rare disorder characterized by the association of low blood betalipoprotein level, ataxia and hearing loss.
• Hypospadias - hypertelorism: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
• Hypothyroidism: The decreased activity of the thyroid gland
• I cell disease: A rare inherited biochemical disorder characterized by the harmful accumulation of chemicals (glycoproteins and glycoplipids) due to the deficiency of an enzyme (UDP-N-acetylglucosamine-I-phosphotransferase).
• Ichthyosiform Erythroderma, Corneal Involvement and Deafness Syndrome: A rare genetic ectodermal disorder characterized by keratitis, skin lesions and sensorineural deafness. The deafness and skin redness are usually present at birth and the corneas of the eye are gradually destroyed by keratitis which can result in loss of vision.
• Ichthyosiform erythroderma, corneal involvement, deafness: A very rare recessively inherited disorder characterized by deafness, eye problems and red scaly skin.
• Ichthyosis - deafness - mental retardation - skeletal anomaly: A rare disorder characterized by deafness, mental retardation, scaly skin and skeletal anomalies.
• Ichthyosis microphthalmos: A rare genetic disorder characterized by dry scaly skin and small eyes.
• Ichythosiform Erythroderma with Leukocyte Vacuolation: A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities. The body is unable to metabolize (break down) triglycerides so they build up in various tissues throughout the body. The severity of the symptoms is variable as the body tissues and organs affected varies amongst patients.
• Immotile cilia syndrome, due to defective radial spokes: A very rare disorder where the cilia fail to move adequately due to abnormal cilia structure. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
• Immotile cilia syndrome, due to excessively long cilia: A very rare disorder where the cilia fail to move adequately due to abnormally long cilia. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
• Inborn amino acid metabolism disorder: A group of inherited disorders where the body is not able to metabolize amino acids consumed in the diet. Amino acids are a part of carbohydrates, fats and proteins and are metabolized in order to provide energy or to make other needed compounds. There are many steps involved in metabolism and the severity can be greatly variable depending on the exact nature of the disorder.
• Incontinentia Pigmenti: A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency.
• Infant Cytomegalic virus: A serious CMV viral infection in newborns.
• Infantile Refsum Disease: Genetic disease affecting nerve and muscle control.
• Infantile multisystem inflammatory disease: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
• Infantile onset spinocerebellar ataxia: A rare disorder that has neurological origins and causes progressive ataxia, impaired tendon reflexes, abnormal limb movements, and sensory, eye muscle and hearing impairment.
• Inhalant abuse: Inhalant abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Inhalants include gasoline, adhesives, solvents, and aerosols. These inhalants can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
• Inhalant addiction: Inhalant addiction refers to the compulsive need to abuse inhalants (e.g. inhaling them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Inhalants are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Inhalants includes glues, shoe polish, household cleaners, room deodorizers and nail polish removers.
• Intellectual deficit - cataracts - calcified pinnae - myopathy: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Intracranial arachnoid cysts: A rare disorder involving a fluid-filled cysts on the arachnoid membrane which is one of the thin layers of tissue that form a membrane which covers the brain. The type and severity of symptoms is determined by the size and location of the cyst.
• Intrauterine infections: Infection of the fetus while still inside the womb. The type and severity of symptoms is determined by the type of infection and at what stage of pregnancy it occurs. Some cases are mild enough to be asymptomatic and others are severe enough to cause a miscarriage.
• Iris dysplasia hypertelorism deafness: A very rare syndrome characterized mainly by widely spaced eyes, deafness and an abnormality of the iris of the eye.
• Iris dysplasia with ocular hypertelorism, psychomotor retardation and sensorineural deafness: A rare syndrome characterized by wide-set eyes, psychomotor retardation, deafness and an eye abnormality.
• Ivic Syndrome: A very rare disorder characterized by finger and hand bone abnormalities (radial ray defects), crossed eyes, deafness and other variable anomalies.
• Jacobsen syndrome: A very rare chromosomal disorder involving the absence of a portion of chromosome 11q. The range and severity of symptoms is determined by the size of the portion that is deleted.
• Jansen type metaphyseal chondrodysplasia: A rare genetic disorder characterized by extremely short stature, unusual face and skeletal and joint abnormalities.
• Jaw conditions: Conditions affecting the temporomandibular joint (the jaw).
• Jaw joint disorders: Any condition involving the jaw joint.
• Jensen syndrome: A rare genetic disorder characterized by degeneration of the optic nerve (causing impaired vision), deafness due to nerve damage and dementia due to calcification of the central nervous system. Death usually results by about the age of 40 with extensive calcification of all parts of the nervous system.
• Jequier-Deonna Syndrome: A very rare condition described in two sisters. It is characterized by vision and hearing problems and incoordination.
• Jeune-Tommasi syndrome: A rare genetic disorder characterized by ataxia, deafness and heart problems.
• Johanson-Blizzard Syndrome: A rare genetic disorder involving a range of abnormalities including a characteristic beak-like small nose, hypothyroidism and deafness.
• Jones syndrome: A very rare syndrome characterized mainly by progressive hearing loss and gum tumors.
• Juberg-Marsidi syndrome: A very rare inherited disorder characterized by severe mental retardation, delayed developmental milestones, muscle problems and growth retardation. The range and severity of symptoms is variable.
• Juvenile Paget disease: A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood. Some juvenile cases are relatively mild.
• Juvenile-onset dystonia: A rare form of progressive dystonia that starts early in life - first or second decade. Dystonia is prolonged involuntary muscle spasms or contractions. Various other physical abnormalities are also present and severe hearing loss usually occurs by the middle of the first decade. In the two reported cases, death occurred early in the third decade.
• Kaplan-Plauchu-Fitch syndrome: A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities.
• Kearns-Sayre Syndrome: A rare neuromuscular disorder characterized by pigmented deposits on the retina, heart disease and progressive paralysis of some eye muscles.
• Keratitis Ichthyosis Deafness Syndrome: A rare genetic ectodermal disorder characterized by keratitis, skin lesions and sensorineural deafness. The deafness and skin redness are usually present at birth and the corneas of the eye are gradually destroyed by keratitis which can result in loss of vision.
• Keratoderma palmoplantar - deafness: A very rare syndrome characterized by deafness and a horny superficial growth on the palms and soles.
• Kidney disease: Reduced kidney function from various causes.
• Kidney symptoms: Symptoms affecting one or both kidneys.
• 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 dysplasia: A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities.
• Knuckle pads, leukonychia and sensorineural deafness: A very rare syndrome characterized mainly by deafness, knuckle pads and white nails.
• Konigsmark-Knox-Hussels syndrome: A very rare syndrome characterized mainly by deafness and optic atrophy.
• Koroxenidis Syndrome: A very rare condition observed in one family. The condition is characterized by defect in the major blood vessels of the heart and deafness.
• Krabbe leukodystrophy: A rare inherited biochemical disorder involving the deficiency of an enzyme called galactocerebrosidase. It is a leukodystrophy which refers to a group of genetic disorders that affect the growth of the protective coating around the brain nerves.
• Kurczynski-Casperson syndrome: A very rare syndrome characterized mainly by premature fusion of skull bones, abnormal ears and webbing of the last two toes.
• LADD Syndrome: A very rare genetic disorder characterized by ear, teeth and tear duct abnormalities.
• LEOPARD Syndrome: A rare genetic disorder characterized by multiple lentigines, pulmonic stenosis, widely spaced eyes and deafness.
• Labrynthitis: Inner ear condition affecting various ear structures
• Lacrimoauriculodentodigital syndrome: A rare genetic disorder characterized by ear, teeth and tear duct abnormalities.
• Larsen syndrome, dominant type: A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual dish-shaped face. The dominant form tends to have less severe dwarfism and more severe flattening of the face and is less likely to include webbed fingers, cleft palate and genital anomalies than the recessive form.
• Lassa fever: Infectious rat-borne West African disease.
• Lateral semicircular canal malformation, familial, with external and middle ear abnormalities: A rare familial syndrome characterized by various internal and external ear abnormalities.
• Latham-Munro syndrome: A rare inherited syndrome characterized by deafness and mutism at birth, epilepsy and myoclonus (muscle twitching).
• Lead poisoning: A type of heavy metal poisoning caused by excessive exposure to lead.
• Leiomyomatosis of esophagus, cataract and hematuria: A very rare syndrome characterized mainly by cataracts, benign esophageal tumors and kidney cell cancer.
• Leiomyomatosis of oesophagus, congenital cataract and hematuria: A rare disorder characterized by congenital cataracts, blood in urine and the development of tumors in the esophagus called a leiomyoma. A leiomyoma is a benign tumor that originates from smooth muscle tissue. These tumors may also be present in the female genital tract and possible in other parts of the body.
• 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.
• Leukomalacia: Softening or destruction of the white matter of the brain. Brain tissue that surrounds fluid-filled parts of the brain (ventricles) is destroyed. It tends to occur mainly in premature or newborn babies who have been deprived of oxygen or have poor blood flow to parts of the brain. Intrauterine infections and premature membrane rupture tend to predispose infants to this condition. This type of brain destruction can cause cerebral palsy. Severity of symptoms varies according to the degree of injury to the brain.
• Lipidosis with triglyceride storage disease: A very disorder involving abnormal storage of fat (triglycerides in parts of the body). The condition causes blood abnormalities as well as skin, eye and hearing problems.
• Lobstein disease: A group of rare inherited diseases that involves fragile bones. There are many different types based on the severity and extent of symptoms. Some types are severe enough to cause stillbirth or infant death whereas other types may cause few if any problematic symptoms.
• Loffredo-Cennamo-Cecio syndrome: A very rare syndrome characterized mainly by scaly skin and small eyes.
• Lop ears, Micrognathia and Conductive Hearing Loss: A very rare condition (described in only a few families) characterized by a small jaw, conductive hearing loss and abnormal ears.
• Lymphocytic choriomeningitis: Rodent-borne viral disease often causing meningitis or encephalitis
• MELAS: A mitochondrial disorder characterized by stroke-like episodes, headaches, vomiting and other neurological symptoms.
• MGA 4: MGA (methylglutaconic aciduria) is a rare genetic disorder where the body's cells are unable to make sufficient energy resulting in an accumulation in the body of 3-methylglutaconic acid. Type 4 is characterized by symptoms which overlap type 1 and 3.
• MURCS Association: A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
• Maghazaji syndrome: A rare syndrome characterized by enlargement of some fingers as well as the underdevelopment of the lower half of one side of the face.
• Mandibuloacral dysplasia: A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. There are two subtypes with type B involving loss of fat layers under the skin mainly in the extremities, face and trunk whereas type A involves mainly the extremities. The severity of the symptoms is variable.
• Mandibuloacral dysplasia with type A lipodystrophy: A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. Loss of fat layers under the skin occurs mainly in the extremities in type B. The severity of the symptoms is variable.
• Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive: A rare, recessively inherited disorder characterized mainly by eye, face, mouth, ear and skull abnormalities.
• Mann syndrome: Symptoms caused by trauma resulting in bruising of the brain. When standing with their eyes closed, patients tend to sway towards the side of the brain injury.
• Marshall syndrome: A rare genetic disorder characterized by a distinctive face and vision and hearing impairment.
• Mastocytosis - short stature - hearing loss: A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment.
• Mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia: A very rare syndrome characterized mainly by short stature, abnormal skin pigmentation, small ears and hearing impairment.
• Maternally inherited diabetes and deafness: A rare disorder characterized by deafness associated with noninsulin-dependent diabetes mellitus.
• Maternally inherited diabetes and deafness with cardiomyopathy: A rare inherited disorder characterized by deafness, heart muscle disease and diabetes.
• May-White syndrome: A rare inherited disorder characterized by involuntary muscle twitching, balance and coordination problems (cerebelar ataxia) and hearing loss.
• Mayer-Rokitansky-Kuster-Hauser, syndrome, type 2 (MRKH type 2): A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
• Measles: Once common viral infection now rare due to vaccination.
• Megarbane-Loiselet syndrome: A rare syndrome characterized mainly by deafness and branchial anomalies.
• Meier-Rotschild syndrome: A rare disorder characterized mainly by short stature, small ears and absent kneecaps.
• Melnick-Fraser syndrome: A rare genetic disorder characterized by hearing loss and kidney malformations. Type 1 involves a defect on the EYA1 gene on chromosome 8q13.3.
• Mende syndrome: A rare condition characterized by congenital deafness, mutism, partial albinism and a mongoloid face as well as other anomalies.
• 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.
• Mental mixed retardation - deafness - clubbed digits: A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers.
• Mental mixed retardation deafnes clubbed digits: A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers.
• Mental retardation - short stature - deafness - genital: A very rare syndrome characterized mainly by mental retardation, short stature, deafness and genital abnormalities.
• Mental retardation cataracts calcified pinnae myopathy: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Mental retardation, X-linked - hypotonic face: A group of syndromes characterized mainly by mental retardation and reduced tone in the facial muscles. Various other abnormalities may be present.
• Mental retardation, X-linked, Wittwer type: A rare disorder characterized by severe mental retardation, retarded growth, seizures and vision and hearing problems. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
• Mercury poisoning: A type of heavy metal poisoning caused by excessive exposure to mercury.
• Microcephaly - deafness syndrome: A very rare syndrome characterized mainly by a small head and deafness.
• Microdontia - type I microtia - deafness: A rare syndrome characterized mainly by small dears, small teeth and deafness.
• Microphthalmia syndromic, type 9: A rare inherited disorder characterized by small or absent eyes and lung, heart and diaphragmatic abnormalities. The disorder is caused by a defect on the STRA6 gene.
• Microsomia - hemifacial - radial defects: A very rare syndrome characterized mainly by a wide range of defects involving the face, ear, mouth, vertebrae and radial bones.
• Middle ear infection: An infection which occurs in the middle ear
• Minamata disease: Ingestion of seafood containing methylmercury can result in neurological toxicity symptoms.
• Mitochondrial diseases: Any of a group of mitochondrial disorders affecting cell metabolism and especially muscles.
• Mitochondrial diseases, clinically indefinite: An inherited biochemical disorder which can affect many body systems such as the skeleton, heart, brain and nervous system.
• Mitochondrial encephalomyopathy - aminoacidopathy: A very rare syndrome characterized mainly by muscle and brain disease and an amino acid disorder.
• Mitochondrial myopathy - lactic acidosis: A very rare syndrome characterized mainly by muscle disease and a metabolic disorder. The severity and progression of the disease is variable with some dying early in their second decade and others living longer.
• Mitochondrial neurogastrointestinal encephalopathy syndrome: A rare genetic disorder which affects a number of body systems and manifests results in symptoms such as droopy eyelids, progressive eye muscle weakness, gastrointestinal dysmotility, brain disease, thin body, peripheral neuropathy and muscle disease.
• Mobius syndrome: Type of facial paralysis.
• Moebius Syndrome: Moebius syndrome is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis.
• Molarization of anterior teeth deafness: A very rare condition characterized by the association of deafness with molarization of the anterior teeth.
• Mondini Dysplasia: A rare disorder where a part of the ear (cochlea) fails to develop completely causing hearing loss. The hearing loss may be gradual or sudden and the severity may be vary from normal hearing to complete hearing loss. Hearing loss may start in childhood or early adulthood.
• Monosomy 8q12 21: A very rare chromosomal disorder where a portion of chromosome 8q is missing. The main symptoms include eye, ear and kidney abnormalities as well as mental retardation.
• 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 II: Disorder of mucopolysaccharide metabolism in juveniles.
• Mucopolysaccharidosis III: Disorder of mucopolysaccharide metabolism in children.
• Mucopolysaccharidosis type 2 Hunter syndrome- mild 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 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 6: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (Arylsulfatase ?) 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 Hurler/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-diuronidase) 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.
• Multiple carboxylase deficiency, propionic acidemia: A disorder of fat metabolism where the body is unable to convert fat to energy due to the lack of a number of enzymes (carboxylases). Sufferers need to eat regularly to prevent symptoms. Symptoms are determined by the size and exact location of the tumor.
• Multiple endocrine abnormalities - adenylyl cyclase dysfunction: A rare syndrome characterized by an enzyme defect (adenylyl cyclase) and a number of endocrine abnormalities.
• 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.
• Myhre Syndrome: A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features.
• Myhre-Ruvalcaba-Graham syndrome: A rare disorder characterized by mental retardation, retarded growth before and after birth, early-onset deafness and facial anomalies as well as other problems.
• Myoclonus with epilepsy with ragged red fibers: A rare disorder of mitochondrial metabolism characterized by myoclonic epilepsy and ragged-red muscle fibers. Mitochondria are the part of the body cells that produce energy.
• Myopathy - ophthalmoplegia - hypoacousia - areflexia: A rare disorder characterized mainly by muscle weakness, paralysis of eye muscles, lack of reflexes and partial hearing loss.
• Myxedema: The most severe form of hypothyroidism characterized by swelling of extremities and face.
• Ménière's disease: Ear fluid disorder causing balance problems.
• Möbius syndrome: Möbius syndrome is a very rare condition characterized by underdevelopment of the facial nerves (particularly sixth and seventh cranial nerves) which causes facial paralysis.
• N syndrome: A rare genetic disorder characterized by mental and physical retardation, eye abnormalities, retarded growth, hearing impairment and a high risk of developing cancers, particularly leukemia. It is an extremely rare condition originally described in two brothers.
• NOMID syndrome: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
• Nasodigitoacoustic syndrome: A rare genetic syndrome characterized by abnormalities of the nose, fingers and toes as well as deafness.
• 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.
• Nathalie syndrome: A very rare condition described in four children of one family. The condition is characterized by wasting of the spine muscles, abnormal heart electrical activity, cataracts, hypogonadism and hearing impairment.
• Neonatal jaundice: A yellow discolouration of the skin which sometimes occurs in newborns
• Nephrosis - deafness - urinary tract - digital malformation: A very rare syndrome characterized mainly by kidney disease, deafness and abnormalities of the urinary tract, fingers and toes.
• Nerve deafness: Deafness that is associated with a defect in the nerve either structurally or functionally
• Nerve sheath neoplasm: Tumors that develop from the protective sheath surrounding nerves. There are two types of nerve sheath tumors: schwannomas and neurofibromas. They most often occur around the spinal cord. Symptoms are determined by the size and exact location of the tumor.
• Nerve symptoms: Symptoms affecting the nerves
• Neuroaxonal dystrophy - renal tubular acidosis: A very rare syndrome characterized mainly by muscle and kidney abnormalities.
• Neuroaxonal dystrophy, infantile: An inherited disorder involving progressive muscular and coordination problems, impaired brain function and speech and vision impairment.
• Neuroectodermal endocrine syndrome: A very rare syndrome characterized mainly by hormonal, hair, skin and brain abnormalities.
• Neurofibromatosis syndrome Type II: A rare genetic disorder characterized by areas of increased and decreased skin pigmentation, acoustic neuromas and the development of many noncancerous nerve and skin tumors some of which may eventually become malignant - it is a more severe form of type I neurofibromatosis.
• Neurofibromatosis-2: Genetic disorder often leading to tumors on nerves.
• Neuropathy - ataxia - retinitis pigmentosa: A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable.
• Neuropathy ataxia and retinis pigmentosa: A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable.
• Neuropathy motor sensory type 2 deafness mental retardation: An inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Deafness and mental retardation are also involved.
• Neurosarcoidosis: A rare disorder involving sarcoidosis of the nervous system. Sarcoidosis is a chronic inflammatory disorder that can affect virtually any part of the body. Neurosarcoidosis involves inflammation and abnormal deposits in parts of the nervous system including the brain and spinal cord which affects their functioning. Symptoms may be sudden and severe or may be mild and progress slowly. Symptoms are determined by the degree of nerve involvement.
• Neurosyphilis - general paresis: A complication of untreated syphilis where the infection invades the brain cells and causes a range of neurological symptoms. The condition is progressive and life-threatening.
• Neurosyphilis - meningovascular: A complication of untreated syphilis where the infection invades the central nervous system and causes cranial nerve palsies and pupil abnormalities.
• Neurosyphilis - tabes dorsalis: A complication of untreated syphilis where the infection invades the spinal cord and progressively impairs muscle function and nerve damage may also occur. This form of the condition is progressive and life-threatening.
• Neutropenia - monocytopenia - deafness: A very rare syndrome characterized mainly by deafness and a blood disorder.
• Niemann-Pick disease: A rare inherited biochemical disorder involving the deficiency of an enzyme (acid sphingomyelinase) needed to break down certain lipids which results in an accumulation of these lipids in the body.
• Niemann-Pick disease, type C1: Niemann-Pick disease is an inherited metabolic disorder where lipids are not able to be metabolized adequately and hence build up and cause damage in various parts of the body such as the spleen, liver, lungs, bone marrow and brain. The different types of the disease are due to different genetic mutations. Type C is a juvenile or subacute form of the condition which usually starts during childhood and survival into adulthood is possible.
• Nievergelt syndrome: A rare inherited bone disease which causes abnormalities in the lower leg and lower arm bones as well as dwarfism and digit anomalies.
• Noise-Induced Hearing Loss: Hearing loss from loud noise exposure.
• 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.
• Nonsyndromic deafness: Hearing loss that occurs without any other symptoms - ie is not associated with any other condition.
• Nonsyndromic hereditary hearing impairment: An inherited form of hearing impairment or deafness that is not associated with any other inherited problems.
• Nyssen-Van Bogaert-Meyer syndrome: A very rare genetic disorder characterized by progressive degeneration of the central nervous system.
• OI, Type I: A genetic condition characterized mainly by fragile bones that fracture easily and blue sclerae. The fractures tend start during early childhood (when walking starts) and becomes worse after menopause or in old age. Fractures tend to heal normally. Type I is the mildest form of osteogenesis imperfecta and results from a reduced amount of normal collagen in the body. Other forms of osteogenesis imperfect tend to involve the presence of abnormal collagen.
• OSMED, Homozygous: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Oculo skeletal renal syndrome: A very rare syndrome characterized mainly by eye, skeletal and kidney problems.
• Oculoauriculovertebral (OAV) dysplasia: A congenital condition which affects the eyes, ears and vertebrae.
• Oculocerebral hypopigmentation syndrome, type Preus: A very rare syndrome characterized mainly by eye, brain and pigmentation abnormalities.
• Oculofaciocardiodental syndrome: A very rare syndrome characterized mainly by eye, face, tooth and heart abnormalities.
• Oculopalatocerebral syndrome: A rare inherited syndrome characterized mainly by short stature, small head, mental retardation, cleft palate and eye problems.
• Oculopalatoskeletal syndrome: A very rare syndrome characterized mainly by eye, mouth palate and skeletal abnormalities.
• Olivopontocerebellar atrophy - deafness: A very rare syndrome characterized mainly by brain abnormalities and deafness.
• Onychodystrophy - deafness: A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R).
• Opitz G Syndrome: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
• Opitz G/BBB Syndrome: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
• Opitz G/BBB Syndrome, Type II: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: Type I inherited in a X-linked manner and type II is inherited in an autosomal dominant manner.
• Opitz G/BBB syndrome, Autosomal dominant: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner.
• Opitz syndrome , X-linked: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
• Opitz-Reynolds-Fitzgerald syndrome: A very rare syndrome characterized mainly by extra little fingers, deafness and bone abnormalities of the face.
• Opthalmoplegia ataxia hypoacusis: A rare disorder characterized by the association of ataxia, impaired hearing and eye movement problems.
• Optic atrophy 1 and deafness: A form of progressive optic nerve dysfunction which results in impaired vision. Deafness is also present and vision loss is usually mild. Some patients develop neurological symptoms later in life. The disorder is caused by a genetic defect (3q28-q29).
• Optic atrophy opthalmoplegia ptosis deafness myopia: A rare syndrome characterized by the association of optic atrophy, ophthalmoplegia, droopy eyelids, deafness and myopia.
• Optic atrophy, deafness and peripheral neuropathy: A very rare syndrome characterized mainly by degeneration of the optic nerve, hearing impairment and peripheral neuropathy. Not all patients will develop peripheral neuropathy.
• Optic atrophy, hearing loss and peripheral neuropathy: A very rare syndrome characterized mainly by degeneration of the optic nerve, hearing impairment and peripheral neuropathy. Not all patients will develop peripheral neuropathy.
• Opticoacoustic nerve atrophy dementia: A rare genetic disorder characterized by degeneration of the optic nerve (causing impaired vision), deafness due to nerve damage and dementia due to calcification of the central nervous system. Death usually results by about the age of 40 with extensive calcification of all parts of the nervous system.
• Oral facial digital syndrome, type 4: A rare inherited disorder characterized by facial, digital and oral abnormalities. Type IV is differentiated from the other types by the presence of severe shinbone deformity.
• Oral submucous fibrosis: A rare disorder involving inflammation and progressive fibrosis of tissues inside the mouth. The condition starts with redness, blistering and ulceration inside the mouth that is eventually replaced with stiff fibrous tissue as it heals. The inside of the mouth can become stiff and hinder oral functions such as eating, speaking and even opening the mouth. Even the pharynx may occasionally be involved. The condition can become cancerous. The disorder is often associated with chewing betel nuts in Asian and Indian areas.
• Oral-facial cleft: A birth defect involving an opening or cleft in the upper lip as well openings or clefts in the soft or hard palate (roof of the mouth)
• Ossified Ear cartilages with Mental deficiency, Muscle Wasting and Bony Changes: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Osteochondrodysplatic dwarfism - deafness - retinitis pigmentosa: A rare syndrome characterized by extreme dwarfism, deafness, progressive scoliosis and retinal pigment anomalies.
• Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints
• Osteogenesis imperfecta Type I: A rare genetic connective tissue disorder characterized by fragile bones, blue sclerae and hyperextensible joints.
• Osteogenesis imperfecta, type 1A: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a type of osteogenesis imperfecta I where the teeth are opalescent and blue sclerae may be absent.
• Osteogenesis imperfecta, type 1B: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a milder form of osteogenesis imperfecta I where the teeth are normal and blue sclerae may be absent.
• Osteogenesis imperfecta, type 2: A rare lethal form of the genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities.
• Osteogenesis imperfecta, type 2A: A rare lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIA has a different origin of the genetic mutation but the clinical features are similar. Type IIA involves a defect on the COL1A2 gene. The main difference is that type IIA tends to involve a large head and dark blue eyes.
• Osteogenesis imperfecta, type 3: A rare genetic connective tissue disorder characterized by progressive limb deformity and normal sclerae.
• Osteogenesis imperfecta, type 4: A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae - a form of OI involving moderate osteoporosis and no joint hyperextensibility.
• Osteogenesis imperfecta, type IIB: A rare, recessively inherited, lethal form of a genetic connective tissue disorder characterized by fragile bones, blue sclerae and facial and tooth abnormalities. Type IIB has a different origin of the genetic mutation but the clinical features are similar. Type IIB involves a defect on the CRTAP gene on chromosome 3p22. The main difference is that type IIA tends to involve a small head and white or light blue eyes.
• Osteopathia striata, cranial sclerosis: A rare disorder characterized by striations along most long bones as well as increased bone density in the skull which is associated with various craniofacial defects.
• Osteopetrosis autosomal dominant type 1: A very rare dominantly inherited syndrome characterized mainly by increased bone density. The increased bone density results because old bone is not resorbed and replaced with new bone. Only 33 cases in 3 families have been reported. In type I, the increased bone density occurs throughout the body with the skull being the most affected. There is no associated increase in risk of fractures. Many cases are asymptomatic.
• Osteopetrosis autosomal dominant type 2: A very rare dominantly inherited syndrome characterized mainly by increased bone density that affects mostly the spine, pelvis and base of the skull. The increased bone density results because old bone is not resorbed and replaced with new bone.
• Osteopetrosis lethal: A severe, lethal form of the brittle bone condition called osteopetrosis.
• Osteoporosis-pseudoglioma syndrome: A rare genetic disorder characterized by early onset of osteoporosis (during childhood) and loss of vision resulting from retinal detachment due to a retinal pseudoglioma (inflammatory eye condition).
• Osteosclerosis, abnormalities of nervous system and meninges: A very rare syndrome characterized mainly by increased bone density and nervous system abnormalities.
• Otitis externa: Infection of the outer ear canal
• Oto-Palatal-digital syndrome: A very rare syndrome characterized a variety of abnormalities including skeletal anomalies, distinctive face and cleft palate. There are two types of the disorder (type 1 and 2) with type 2 being more severe.
• Oto-palato-digital syndrome, type 2: A rare genetic disorder characterized by head, face, mouth and bone abnormalities.
• Oto-spondylo-megaepiphyseal dysplasia, autosomal recessive: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Oto-spondylo-megaepiphyseal dysplasia, homozygous: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
• Otodental dysplasia: A very rare syndrome characterized mainly by ear and tooth abnormalities. The back teeth are large and have bulbous crowns without the normal grooves and features.
• Otopalatodigital Syndrome Type I: A rare genetic disorder characterized by ear, palate, skull, face, finger, toe and other skeletal abnormalities. Type 1 is a milder form of the condition than type 2. Males tend to have more severe symptoms than females who may exhibit only facial anomalies.
• Otopalatodigital Syndrome Type I and II: A rare genetic disorder characterized by ear, palate, skull, face, finger, toe and other skeletal abnormalities.
• Otosclerosis: Genetic ear bone disorder
• Otosclerosis, familial: Increased density of bones of the inner and middle ear which can affect hearing. Complete hearing loss is rare and progression is often slow.
• Otospondylomegaepiphyseal dysplasia: A rare genetic disorder where abnormal bone growth causes hearing loss, skeletal abnormalities and characteristic facial features.
• Paget disease juvenile type: A rare genetic bone disorder involving abnormal loss of bone mineralization and remineralization, broadened bone shafts and high levels of alkaline phosphatase in the blood. Some juvenile cases are relatively mild.
• Paget's disease of bone: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile.
• Paget's disease, type 1: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile. Type 1 is caused by a mutation on chromosome 6p21.3.
• Paget's disease, type 4: A rare disorder involving pigmentation and vascular abnormalities. The lesions usually involve large areas of the body and the pigmentation color can include pink, bluish and brown.
• Pain: Any type of pain sensation symptoms.
• Pallister Killian Mosaic Syndrome: Pallister Killian Mosaic Syndrome is a very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Pallister Mosaic Syndrome Tetrasomy 12p: A very rare disorder genetic disorder involving abnormalities in chromosome 12. The severity of symptoms is variable and tends to include a wide range of defects and abnormalities.
• Paraganglioma: A rare, usually benign tumor most often found in the abdomen, chest, head and neck areas. The tumor develops from glomus cells which are located along blood vessels involved in automatic body activities such as regulation of blood pressure and blood flow. Symptoms may vary depending on the exact location of the tumor.
• Patterson-Stevenson syndrome: A very rare syndrome characterized mainly by a missing fingers giving the hand a split appearance as well as jaw and face abnormalities.
• Pendred syndrome: An inherited condition characterized by hearing loss and goiter formation. The enlarged thyroid gland often continuges to function normally.
• Perforated eardrum: Hole occurring in the eardrum
• Peripheral Neuropathy - Intestinal Pseudo-Obstruction - Deafness: A reported case involving chronic intestinal pseudo-obstruction, deafness from birth and peripheral neuropathy.
• Pfeiffer Syndrome Type I: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity. Type I is the mildest of the three Pfeiffer Syndrome subtypes.
• Pfeiffer syndrome: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
• Phacomatosis pigmentokeratotica: A very rare syndrome characterized mainly by abnormally pigmented areas on the skin which is associated with neurological problems. The skin pigmentation spreads and generally occurs only on one side of the body.
• Phocomelia - contractures - absent thumb: A very rare syndrome characterized mainly by absent thumbs, contractures and missing arm and leg bones.
• Phocomelia ectrodactyly deafness sinus arrhythmia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
• Phocomelia ectrodactyly ear malformation deafness sinus arrhythmia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
• Phosphoribosylpyrophosphate synthetase superactivity: A rare X-linked metabolic disorder caused by the excessive activity of a particular enzyme (Phosphoribosylpyrophosphate synthetase). The main manifestations are increased production of uric acid and purine nucleotide.
• Pierre Robin syndrome - fetal chondrodysplasia: A very rare inherited disorder involving bone growth abnormalities, impaired hearing and a characteristic face.
• Pierre-Robin syndrome with fetal chondrodysplasia: A very rare inherited disorder involving bone growth abnormalities, impaired hearing and a characteristic face.
• Pinealoma: A slow-growing type of brain tumor that occurs in the pineal gland. The pineal gland produces a hormone called melatonin which is involved in regulating sleep patterns.
• Pineoblastoma, adult: A rare type of highly malignant brain tumor that usually occurs in children. The tumor develops in the pineal region of the brain.
• Plant poisoning - Lobeline: Lobeline is a chemical found naturally in plants called lobelias. Ingesting plants containing the chemical produces symptoms similar to the effects of nicotine.
• Polydactyly cleft lip palate psychomotor retardation: A very rare syndrome described in a small inbred group of families and characterized by bifid toes, extra big fingers, cleft lip or palate and psychomotor retardation. There were various other symptoms that were variably present.
• Polyostotic osteolytic dysplasia, hereditary expansile: A very rare syndrome characterized by severe bone pain and deformity as well jaw and ear abnormalities. Deafness usually starts in the first decade. Bone symptoms such as pain usually start in the second decade.
• Presbycusis: High frequency hearing loss associated with difficulty in speech differentiation.
• Primary ciliary dyskinesia: A very rare disorder where the cilia fail to move. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
• Primary ciliary dyskinesia, 2: A very rare disorder where the cilia fail to move. Type 2 differs from the other forms of primary ciliar dyskinesia in the location of the genetic defect (19q13.3qter). The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
• Primary ciliary dyskinesia, 3: A very rare disorder where the cilia fail to move. Type 3 differs from the other forms of primary ciliar dyskinesia in the location of the genetic defect (5p). The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
• Primary ciliary dyskinesia, 4: A very rare disorder where the cilia fail to move. Type 4 differs from the other forms of primary ciliar dyskinesia in the location of the genetic defect (15q13.1-q15.1). The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
• Primary ciliary dyskinesia, 5: A very rare disorder where the cilia fail to move. Type 5 differs from the other forms of primary ciliar dyskinesia in the location of the genetic defect (16p12.2-p12.1). The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
• Primary ciliary dyskinesia, 6: A very rare disorder where the cilia fail to move. Type 6 differs from the other forms of primary ciliar dyskinesia in the location of the genetic defect (7p14-p13). The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
• Primerose syndrome: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Primrose Syndrome: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Progeria short stature pigmented nevi: A very rare inherited disorder characterized by premature aging, short stature, and immune system deficiency. The type and severity of symptoms is variable.
• Progressive hearing loss stapes fixation: A rare condition characterized by hearing loss, fixation of stapes (ear bone which causes conductive deafness if it becomes fixed and immovable) and reduced vestibular response.
• Proximal tubulopathy - diabetes mellitus - cerebellar ataxia: A very rare syndrome characterized mainly by diabetes, movement disorder and kidney abnormality. Death often occurs during childhood.
• Pseudoadrenoleukodystrophy: A rare disorder where an enzyme deficiency (Acyl-CoA Oxidase) results in symptoms such as seizures, apnea, delayed psychomotor retardation and neurological deterioration.
• Pseudopapilledema - blepharophimosis - hand anomalies: A very rare syndrome characterized mainly by malformations involving the hands, feet ears and face as well as deafness.
• Ptosis - coloboma - trigonocephaly: A very rare syndrome characterized mainly by droopy eyelids, coloboma and triogoncephaly as well as other variable features.
• Pyle disease: A rare genetic disorder characterized by numerous bone abnormalities as well as loss of vision and hearing.
• Quinine - Teratogenic Agent: There is evidence to indicate that exposure to Quinine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Ramos-Arroyo Syndrome: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
• Ramos-ArroyoClark syndrome: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
• Ramsay Hunt I syndrome: Reactivation of the chicken pox virus wich affects the facial nerves.
• Reardon-Wilson-Cavanagh syndrome: A rare genetic syndrome characterized by progressive ataxia, deafness and mental retardation.
• Reduced hearing: A reduction from normal of someone's hearing
• Refsum Disease: A metabolic disorder where a deficiency of phytanic acid alpha-hydroxylase results in a buildup of phytanic acid in the body which causes neurological disorders.
• Renal caliceal diverticuli - deafness: A very rare syndrome characterized mainly by deafness and urinary tract and kidney anomalies.
• Renal tubular acidosis progressive nerve deafness: A kidney disorder where progressive nerve deafness is associated with the kidney's is inability to effectively remove acid from the blood and excrete it into the urine. The defect occurs in the distant portion of the kidney tubules whose job is to remove acid from the blood and excrete it through the urine.
• Renal tubulopathy - diabetes mellitus - cerebellar ataxia: A very rare condition characterized by rapidly progressive diabetes, kidney disease and cerebellar ataxia. Symptoms develop during the first five years.
• Renal-genital-middle ear anomalies: A very rare syndrome characterized mainly by kidney, genital and middle ear abnormalities.
• Renier-Gabreels-Jasper syndrome: A very rare inherited syndrome characterized by a small head, severe mental retardation, spasticity, deafness and epilepsy.
• Retinis pigmentosa - deafness - hypogenitalism: A very rare syndrome characterized mainly by progressive retinal damage, deafness and genital anomalies.
• Retinitis pigmentosa - mental retardation - deafness: A very rare syndrome characterized mainly by progressive retinal damage, mental retardation and deafness.
• Retinitis pigmentosa, deafness, mental retardation, hypogonadism: A rare genetic disorder characterized by mental retardation, reduced hormone production by the testes or ovaries, deafness and vision problems.
• Retinitis pigmentosa-deafness syndrome: A condition characterized by the association of an eye disease and deafness.
• Retinohepatoendocrinologic syndrome: A rare inherited disorder characterized mainly by eye, liver and endocrine function abnormalities.
• Rett-like syndrome: A very rare syndrome characterized mainly by
• 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
• Richards-Rundle syndrome: A very rare syndrome characterized mainly by mental retardation, ataxia, deafness and ketoaciduria.
• Rieger syndrome 2: A rare disorder where abnormal development of the front portion of the eye causes glaucoma and impaired vision. Other abnormalities are also present.
• Rigid mask-like face - deafness - polydactyly: A very rare syndrome characterized mainly by deafness, extra digits and a rigid, mask-like face.
• Robinson-Miller-Bensimon syndrome: A very rare syndrome characterized by deafness, malformed nails and other abnormalities.
• Rocky Mountain spotted fever: A bacterial disease caused by Rickettsia rickettsii and transmitted by ticks. The condition causes fever and a characteristic rash and may be fatal in severe or untreated cases.
• Rosenberg-Chutorian Syndrome: A very rare disorder involving eye, ear and nerve disorders.
• Rowley syndrome: An inherited syndrome involving the association of hearing loss with branchial fistula.
• Rubella virus antenatal infection: A rare disorder caused by exposure of the fetus to maternal rubella and resulting in a range of abnormalities and fetal death is also possible.
• Ruptured ear drum: Hole occurring in the eardrum
• Ruzicka-Goerz-Anton syndrome: A rare genetic syndrome characterized by rough scaly skin, deafness, mental retardation and skeletal anomalies.
• SCHAD deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
• Saethre-Chotzen syndrome, chromosome 7 p15.3p21.3: A rare genetic disorder characterized by finger anomalies and premature joining of certain skull bones during development which has an impact on the shape of the head and face. There appears to be considerably variability of symptoms and clinical features of the disorder depending on the exact size and location of the portion of chromosomal material deleted. In this particular form, the chromosomal material deleted is located on chromosome 7 p15.3p21.3.
• Sanfilippo syndrome type A: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans). This occurs due to there being not enough of the enzyme called heparin sulfatase which is needed to break down the mucopolysacharides. The mucopolysaccharides are then deposited in various tissues.
• Sanfilippo syndrome type B: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) due to deficiency of an enzyme called N-acetyl-alpha-D-glucosaminidase. Mucopolysaccharide levels build up and are then deposited in various tissues.
• Santos-Mateus-Leal syndrome: A very rare syndrome characterized mainly by extra fingers, deafness and an intestinal disorder called Hirschsprung disease where waste material fails to move effectively through the intestinal system resulting in constipation.
• Schaap-Taylor-Baraitser syndrome: A very rare syndrome characterized mainly by deafness, cataracts and a deficiency of sex hormone production.
• Schaefer-Stein-Oshman syndrome: A rare disorder where excessive growth and abnormal hardening affects the head and facial bones.
• Schimke, X-linked, mental retardation syndrome: A very rare syndrome characterized by mental retardation, abnormal involuntary movements and retarded growth.
• Schindler disease: Schindler disease is a rare congenital metabolic disorder involving a deficiency of a particular enzyme (alpha-N-acetylgalactosaminidase) which results in a buildup of glycoproteins in the body. The condition originates from a genetic mutation and is an inherited disorder. There are three main types of this condition, each with varying severity. The most severe form usually results in death within a few years of birth whereas the mild form doesn't cause symptoms until after the age of 30. The type and severity of symptoms varies depending on which form of the disease is involved.
• Schindler disease, type 1: Schindler disease is a rare congenital metabolic disorder involving a deficiency of a particular enzyme (alpha-N-acetylgalactosaminidase) which results in a buildup of glycoproteins in the body. The condition originates from a genetic mutation and is an inherited disorder. There are three main types of this condition, each with varying severity. Type 1 is an infantile form and is the most severe form. It usually results in death within a few years of birth.
• Schinzel Giedion Syndrome: A rare genetic disorder characterized by many skeletal and genital anomalies, unusual face, mental retardation and kidney malformations.
• Schizophrenia - mental retardation - deafness - retinitis: A very rare syndrome characterized mainly by mental retardation, deafness, retinitis and schizophrenia.
• Schlegelberger-Grote syndrome: A very rare syndrome characterized mainly by deafness, fingerlike thumbs and a blood disorder involving abnormally shaped blood platelets.
• Schwannoma: Solid, benign tumour derived from Schwann cells. Primarily found in the cerebellopontine angle.
• Sclerosteosis: A rare genetic disorder characterized by syndactyly and thickening and overgrowth of bone.
• Sensations: Changes to sensations or the senses
• Sensitive hearing: Overly sensitive hearing (hyperacusis) in one or both ears.
• Sensorineural deafness: A condition which is characterized by hearing loss or impairment due to a problem with the cochlear or the acoustic nerve
• Sensorineural hearing loss: Hearing loss due to abnormal functioning or damage to the hearing nerve or the cochlea (inner ear) or the part of the brain that processes sound. The hearing problem may be present at birth or may be acquired through such things as aging, excessive noise or diseases such as meningitis.
• Sensorineural hearing loss, early greying, and essential tremor: A rare syndrome characterized by hearing impairment, premature graying of hair and tremors which start in adulthood.
• Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis: A very rare syndrome characterized by progressive ataxia, eye muscle problems and a speech disorder (dysarthria).
• Sensory nerve trauma: Injury or damage to a sensory nerve. Sensory nerves are nerves associated with delivering information from the body to the brain and spinal cord relating to the five senses - vision, hearing, touch, taste and smell. Damage to these nerves can result in heightened, reduced or abnormal sensations. Severity of symptoms vary depending on the location and extent of damage to the affected nerves.
• Senter syndrome: A rare genetic ectodermal disorder characterized by ichthyosiform erythroderma and sensorineural deafness.
• 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.
• Serratia ear infection: Ear infection caused by bacteria from the Serratia genus. These bacteria are a rare cause of infection.
• Short stature - microcephaly - seizures - deafness: A very rare syndrome characterized by the association of short stature, small head, seizures and deafness.
• Short stature deafness neutrophil dysfunction: A very rare syndrome characterized by short stature, deafness and frequent infections due to abnormal neutrophils.
• Short stature deafness neutrophil dysfunction dysmorphism: A rare condition characterized mainly by the association of short stature, deafnes, neutrophil dysfunction and an unusual facial appearance.
• Shprintzen syndorme: An inherited syndrome of cardiac defects and craniofacial anomalies and various other abnormalities.
• Shprintzen-Goldberg syndrome: A rare malformations syndrome characterized by abnormalities such as small head, eye problems, poor muscle tone, hearing problems and Hirschsprung megacolon where defective intestinal muscles are unable to move stool efficiently through the intestines.
• Siegler-Brewer-Carey syndrome: A very rare syndrome characterized mainly by cataracts, ear infections, poor absorption by the intestines, respiratory infections and failure to thrive.
• Sinus cancer: Cancer that originates from the mucosal tissue lining the sinus cavities or rarely from the bone itself.
• Skeletal and Cardiac Malformations with thrombocytopenia: A rare, newly described syndrome characterized by skeletal and heart abnormalities as well as a blood disorder.
• Skeleto cardiac syndrome with thrombocytopenia: A rare, newly described syndrome characterized by skeletal and heart abnormalities as well as a blood disorder.
• Skull fracture: A fracture of the bones of the skull
• Smith-Martin-Dodd syndrome: A very rare syndrome characterized mainly by small eyes, a hernia and a heart defect (tetralogy of Fallot).
• Solvent abuse: Solvent abuse is the use of various inhalants for the purpose of achieving a "high". They are often used as a cheap, readily available alternative to street drugs but they can cause serious damage to the body. Solvents include nail polish removers, paint thinners, gasoline, typing correction fluid and toxic markers. These solvents can be abused by sniffing them, spraying directly into the mouth, heating them and then inhaling them or injecting them directly into the body.
• Solvent addiction: Solvent addiction refers to the compulsive need to abuse solvents (e.g. sniffing them). Sufferers have withdrawal symptoms when attempting to stop the habit and feel unable to stop the habit despite knowing the harm it is causing their health. Solvents are very damaging to the body and can readily result permanent brain damage and even death. Death can occur through chronic use and in rare cases can occur after one session of use. Children and teenagers are particular at risk for this type of addiction - it is readily available and users feel it gains them greater acceptance from their peers. Solvents includes paint thinner, toxic markers, gasoline, cigarette lighter fluid, typing correction fluid and nail polish removers.
• Soto's Syndrome: A rare hereditary disorder characterized by excessive growth during the first few years of life as well as various other mental and physical anomalies.
• Spastic paraparesis deafness: A syndrome that is characterized with spastic paraparesis and deafness.
• Spastic paraplegia nephritis deafness: A very rare syndrome characterized mainly by spastic paraplegia, progressive kidney disease and deafness.
• Sphingolipidosis: A group of diseases involving the abnormal metabolism and storage of a substance called sphingolipid. Symptoms will vary depending on the disease. Examples of diseases from this group include gangliosidosis, Gaucher's disease and Niemann-Pick disease.
• Spinocerebellar ataxia - amyotrophy - deafness: A very rare syndrome characterized by muscle weakness and wasting, ataxia and deafness.
• Spinocerebellar ataxia, X-linked, 3: A rare neurological disorder involving mainly ataxia and deafness which starts during infancy and progresses quite rapidly to result in childhood death.
• Spinocerebellar ataxia, autosomal recessive 3: A rare neurological disorder caused by a genetic defect (chromosome 6p21, recessive) and resulting in ataxia and loss of vision and hearing.
• Steinfeld syndrome: A very rare syndrome characterized by kidney abnormalities, single brain lobe and a heart defect.
• Stickler Syndrome: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities.
• Stickler Syndrome, type I: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 1 is caused by a genetic defect on chromosome 12q13.11-q13.2
• Stickler Syndrome, type II: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 2 is caused by a genetic defect on chromosome 1p21
• Stickler Syndrome, type III: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and ear abnormalities. Type 3 is caused by a genetic defect on chromosome 6q21.3. Type 3 doesn't involve any of the eye problems that occur in type 1 and 2.
• Stoll Levy Francort Syndrome: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
• Stoll-Levy-Fancfort syndrome: A rare syndrome characterized mainly by deafness, missing fingers, abnormal heart rhythm and missing bones in limbs.
• Streptomycin - Teratogenic Agent: There is evidence to indicate that exposure to Streptomycin 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.
• Stroke symptoms: Brain-related symptoms of bleeding or blockage.
• Sulfatidosis juvenile, Austin type: A very rare metabolic disorder where all the sulfatase enzymes are impaired resulting in a variety of physical and developmental abnormalities.
• Superficial siderosis of the central nervous system: A rare disorder where hemosiderin (free iron) is deposited in parts of the central nervous system (brain and spinal cord tissue). It is often caused by repeated periods of bleeding in the brain (subarachnoid space).
• Susac syndrome: A very rare characterized by poor blood supply resulting in damage to chochlear, retinal and brain tissue. It is results form inflammation of small blood vessels. Recurring attacks occur over a couple a couple of years and are months apart. The condition resolves itself eventually and the severity of persisting symptoms is variable.
• Syndactyly, Cenani Lenz type: A rare birth defect syndrome characterized by various hand bone abnormalities.
• Syndromic Dystelephalangy: A rare syndrome characterized by bowed end bones of digits, facial anomalies and various other symptoms.
• Synovitis granulomatous with uveitis and cranial neuropathies: A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions.
• 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.
• TORCH Syndrome: Infection of a fetus by any of a group of infectious agents which have been transmitted from the mother through the placenta. The infections include toxoplasmosis, rubella, cytomegalovirus, herpes virus, hepatitis and syphilis. The severity and nature of symptoms is determined by the type of infection.
• Tang Hsi Ryu syndrome: A rare syndrome characterized by enlarged liver and spleen, increased pigmentation and abnormal peripheral nerve functioning.
• Tay Sachs: Rare genetic disease leading to fatty deposits in the brain.
• Tay Sachs Disease: A condition which is causes GM2 gangliosidosis
• Tay-Sachs disease - juvenile onset: A rare inherited biochemical disorder involving the deficiency of an enzyme called Hexosaminidase A. There are two forms of the disease - juvenile and adult onset.
• Telfer-Sugar-Jaeger syndrome: A rare genetic disorder characterized by patches of skin depigmentation as well as neurological problems such as incoordination, deafness and mental retardation.
• Tempormandibular joint pain: Temporomandibular joint pain occurs as a result of problems with the jaw, jaw joint, and surrounding facial muscles that control chewing and moving the jaw.
• Temtamy preaxial brachydactyly syndrome: A rare syndrome characterized by mental retardation, deafness, retarded growth, finger abnormalities and various other anomalies.
• Thalidomide - Teratogenic Agent: There is evidence to indicate that exposure to Thalidomide 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.
• Thiamine responsive megaloblastic anemia syndrome: A rare genetic disorder characterized by megaloblastic anemia, hearing loss and diabetes. The condition is caused by a deficiency of a thiamine (vitamin B1) transporter protein which means that the body is unable to effectively utilize thiamine from the diet.
• Thies Reis syndrome: A rare condition characterized by hearing loss caused by fixation of stapes (ear bone which causes conductive deafness if it becomes fixed and immovable). It can occur as a result of various bone diseases or even chronic ear infections.
• Thong-Douglas-Ferrante syndrome: A very rare syndrome characterized mainly by short stature, deafness and a blood abnormality.
• Thoracic dysplasia - hydrocephalus syndrome: A very rare syndrome characterized by abnormal chest development and excess fluid inside the skull.
• Thrombocytopenia - Robin sequence: A very rare syndrome characterized by a variety of abnormalities such as short stature, unusual hair, reduced blood platelets, heart defects and tooth enamel anomaly.
• Thyrocerebral-retinal syndrome: A very rare syndrome observed in a brother and sister and characterized by thyroid, kidney and neurological disease.
• Tinnitus: A continual ringing sensation occurring in one or both ears
• Toriello syndrome: A rare syndrome characterized by brachial arch defects and other abnormalities such as short stature, mental retardation and small head.
• Toxoplasmosis: Infection often caught from cats and their feces.
• Treft-Sanborn-Carey syndrome: A rare syndrome characterized by a variety of eye problems, deafness and muscle disease.
• Trichinosis: Worm infection usually caught from pigs
• Trichorhinophalangeal syndrome type 2: A rare genetic disorder characterized by bony growths, bulbous nose, distinctive facial features and loose excess skin during infancy.
• Triglyceride storage disease with impaired long-chain fatty acid oxidation: A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities.
• Trigonocephaly - ptosis - coloboma: A rare syndrome characterized by droopy eyelids, brain malformation, a triangular shaped prominent forehead and an eye abnormality.
• Trisomy 13 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 13 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. There appears to be a direct correlation between the number of cells in the body containing the chromosomal defect and severity of symptoms and survival.
• 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.
• Tunglang-Savage-Bellman syndrome: A very rare syndrome characterized mainly by hearing loss and abnormal salivary gland function.
• Type 10 17b-hydroxysteroid dehydrogenase deficiency: A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Symptoms tend to be more severe in males who suffer progressive neurodegeneration whereas females tend to suffer mainly from developmental delay.
• Typhus fever: A general name for various arthropod-borne rickettsial infections
• Unusual facies, osteosarcoma and malformation syndrome: A rare syndrome characterized mainly by an unusual facial appearance, osteosarcoma, hearing problems and other variable abnormalities.
• Upper limb defect eye and ear abnormalities: A rare disorder characterized by underdeveloped thumb and ear, deafness and an eye defect.
• Upper respiratory tract infection: The occurrence of an infection of the upper respiratory tract
• Usher Syndrome: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss.
• Usher Syndrome Type 1: A rare inherited disorder characterized by sensorineural deafness at birth or soon after and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood.
• Usher Syndrome Type 3: A rare inherited disorder where children are born with normal hearing and vision which progressively deteriorates at a variable rate.
• Usher syndrome, type 1B: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
• Usher syndrome, type 1C: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 11p15.1.
• Usher syndrome, type 1D: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 10q21-q22.
• Usher syndrome, type 1E: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 21q21.
• Usher syndrome, type 1F: A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deafness occurring at birth or during first year and vision loss starting during childhood. The defect occurs on chromosome 10q21-q22.
• Usher syndrome, type 2A: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
• Usher syndrome, type 2B: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
• Usher syndrome, type 2C: A syndrome which is characterised by congenital bilateral sensorineural hearing loss
• Van Buchem disease type 2: A disease which is characterised by early onset osteoporosis
• Vasquez Hurst Sotos syndrome: A rare genetic disorder characterized by underdeveloped genitals, obesity, mental retardation and skeletal abnormalities.
• Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.
• Verloes Gillerot Fryns syndrome: A syndrome characterised by multiple congenital abnormalities and mental retardation.
• Verloes-David Syndrome: An inherited condition characterised by shortness of stature and multiple skeletal abnormalities.
• Vestibulocochlear Nerve Diseases: Diseases that affect the vestibular and/or cochlear nerves of the hearing system. Such diseases include cochlear neuritis, acoustic neuroma, and vestibular neuritis. Symptoms depend on which of the nerves are involved.
• Vestibulocochlear dysfunction progressive familial: A condition which is characterised by vestibulocochlear dysfunction that occurs in a familial pattern
• Vestibulocochlear dysfunction progressive familial type: An inherited disorder involving progressive hearing loss due to inner ear abnormalities.
• Vogt-Koyanagi-Harada Syndrome: A rare condition characterized by poliosis and hair, skin, eye and ear abnormalities as well as retinal detachment and neurological involvement.
• Vohwinkel syndrome: A rare condition where tight bands of thickened skin form around the base of fingers and toes and generally leads to self-amputation of the digit. Hearing loss is also associated with the condition.
• Waardenburg syndrome: A rare genetic disorder with a large variation in range and severity of symptoms but generally involves hearing loss, characteristic facial abnormalities and changes in skin, hair and eye pigmentation.
• Waardenburg syndrome type 2: A hereditary, autosomal dominant disorder.
• Waardenburg syndrome type 2A: A hereditary, autosomal dominant disorder.
• Waardenburg syndrome type 2B: A hereditary, autosomal dominant disorder.
• Waardenburg syndrome type IIA: A rare genetic disorder characterized by partial albinism and have a greater hearing impairment than Waardenburg syndrome type I. Type 2A is distinguished from other forms of type 2 in the origin of the genetic defect - MITF gene on chromosome 3p14.1-p12.3.
• Waardenburg syndrome type IIB: A rare genetic disorder characterized by partial albinism and have a greater hearing impairment than Waardenburg syndrome type I. Type 2B is distinguished from other forms of type 2 in the origin of the genetic defect - chromosome 1p.
• Waardenburg syndrome type IIC: A rare genetic disorder characterized by partial albinism and have a greater hearing impairment than Waardenburg syndrome type I. Type 2C is distinguished from other forms of type 2 in the origin of the genetic defect - chromosome 8p23.
• Waardenburg syndrome type IID: A rare genetic disorder characterized by partial albinism and have a greater hearing impairment than Waardenburg syndrome type I. Type 2D is distinguished from other forms of type 2 in the origin of the genetic defect - chromosome 8q11.
• Waardenburg syndrome type IIE: A rare genetic disorder characterized by partial albinism and have a greater hearing impairment than Waardenburg syndrome type I. Type 2E is distinguished from other forms of type 2 in the origin of the genetic defect - SOX10 gene on chromosome 22q13.
• Waardenburg syndrome types I: A rare genetic disorder characterized by lateral displacement of medial canthi, partial albinism and deafness.
• Waardenburg syndrome, type 3: A rare syndrome involving deafness, pigmentation and musculoskeletal abnormalities
• Waardenburg syndrome, type 4: A rare inherited eye disorder characterized by loss of central vision as well as symptoms of Hirschsprung disease which is an intestinal disorder that prevents waste material from moving effectively through the digestive system.
• Waardenburg type 1: A hereditary, autosomal dominant disorder.
• Waardenburg type pierpont: A rare disorder characterized mainly by a cleft palate and cleft lip as well as hearing problems and pigmentation anomalies. The combination of symptoms may vary somewhat with the cleft lip and palate being constant features.
• Wagner-Stickler Syndrome: There is confusion about whether Wagner and Stickler disease are actually extremes of the same disorder and thus the term Wagner-Stickler syndrome is sometimes used. Both conditions involve varying degrees of degeneration of eye structures with Stickler syndrome also involving other variable symptoms such as deafness and facial, oral and skeletal abnormalities.
• Warfarin syndrome: Various physical and other abnormalities that can result from the use of the drug Warfarin during the first trimester of pregnancy.
• Warthin's tumor: A tumor of the parotid salivary glands.
• Watson syndrome: A rare syndrome characterized by short stature, reduced intelligence, café au lait spots and narrowing of pulmonary valves.
• Wegener's granulomatosis: A rare disease involving blood vessel inflammation which can affect the blood flow to various tissues and organs and hence cause damage. The respiratory system and the kidneys are the main systems affected.
• Wells Jankovic syndrome: A syndrome that is characterised with spastic paraparesis and deafness
• Wildervanck syndrome: A rare birth disorder involving hearing loss, fusion of vertebrae and eye movement abnormalities/
• Wildervanck syndrome 3: An inherited syndrome characterized by a hole in the skin near the ears, malformed ears and hearing loss.
• Wilkes Stevenson syndrome: A syndrome that is characterised by multiple congenital abnormalities
• Willems De vries syndrome: A syndrome that is characterised by prominent short limbs, subluxed knees and a cleft palate
• Wittwer sydnrome: A syndrome that is characterised by the occurrence of growth retardation, blindness, hearing loss, dysmorphic features, epilepsy, mental retardation and the absence of speech
• Wolf-Hirschorn syndrome: A syndrome characterised by the partial deletion of the short arm of chromosome 4
• Wolfram Syndrome 2: Wolfram Syndrome is a condition characterized by the association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Type 2 is the result of a genetic defect and is similar to type 1 but there is no diabetes insipidus and patients tend to develop gastrointestinal problems.
• Wolfram Syndrome, Mitochondrial form: A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects.
• Wolfram's disease: A condition that is inherited and consists of multiple symptoms
• Woodhouse Sakati syndrome: A condition which consists of numerous symptoms such as diabetes, hypogonadism, deafness and mental retardation
• Wright dick syndrome: A rare, dominantly inherited syndrome characterized mainly by sensory nerve impairment and dementia.
• Wyburn Mason's syndrome: A rare genetic condition mainly involving enlarged brain blood vessels and skin and eye abnormalities.
• 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
• Xeroderma pigmentosum: A rare pigmentary disease that is caused by an enzyme deficiency
• Xeroderma pigmentosum, type 1: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation - type 1 has the lowest level of repair and the most neurological complications.
• Xeroderma pigmentosum, type 2: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type B is often associated with signs of Cockayne syndrome.
• Xeroderma pigmentosum, type 4: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type D involves neurological symptoms.
• Xeroderma pigmentosum, type 7: A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in the body's ability to repair the damage to DNA done by UV radiation. Type G usually involves severe neurological symptoms.
• Yemenite deaf-blind hypopigmentation syndrome: A condition which is characterised by the association of several symptoms which affect ones hearing and vision
• Young Simpson syndrome: A condition that is characterised by mainly mental retardation and physical signs of hypothyroidism
• Zadik Barak Levin syndrome: A condition that affects the endocrine system as well as some facial characteristics
• Zellweger Syndrome: Zellweger spectrum disorders are a group of rare, genetic, multisystem disorders that were once thought to be separate entities. These disorders are now classified as different expressions (variants) of one disease process. Collectively, they form a spectrum or continuum of disease. Zellweger syndrome is the most severe form; neonatal adrenoleukodystrophy is the intermediate form; and infantile Refsum disease is the mildest form.
• Ziprkowski-Adam syndrome: A rare syndrome characterized by deafness from birth and total albinism.
• Ziprkowski-Margolis syndrome: A congenital disorder characterized by lack of skin pigmentation with patches of pigmented skin (piebaldism), different colored eyes and deafness.
• Zunich neuroectodermal 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.
• 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.

 » Next page: Disease Center Information

Rate This Website

What do you think about the features of this website? Take our user survey and have your say:

Website User Survey

Medical Tools & Articles:

Next articles:

• Disease Center Information
• Surveys
• Join in at the forums

Tools & Services:

• Bookmark this page
• Surveys relating to Hearing impairment
• Symptom Search
• Symptom Checker
• Medical Dictionary
• Give your feedback

Medical Articles:

• Disease & Treatments Search
• Misdiagnosis Center
• Full list of interesting articles

Forums & Message Boards

• Ask or answer a question at the Boards:
• I cannot get a diagnosis. Please help.
• Tell us your medical story.
• Share your misdiagnosis story.
• What is the best treatment for my condition?
• See all the Boards.

Enter your search terms Submit search form
Search The Web Search wrongdiagnosis.com

Common Health Mistakes

Symptom
Checker

Search Specialists by State and City