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Diseases » Deafness » Glossary
 

Glossary for Deafness

  • 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.
  • 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 Neurinoma: A benign tumor of the 8th cranial nerve which lies in the tube connecting the inner ear to the brain.
  • Acoustic neuroma: A benign tumor of the 8th cranial nerve which lies in the tube connecting the inner ear to the brain.
  • Acrofacial dysostosis, Nager type: A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects.
  • 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.
  • 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 genetic disorder involving a group of abnormalities affecting vision, hearing, kidney function and also characterized by obesity and diabetes mellitus.
  • 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 most or all of the brain is missing - most die before birth. Usually the associated portions of skull and other tissue are also missing.
  • 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.
  • 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.
  • 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.
  • 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 injury due to eustachian tube blockage
  • 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.
  • 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
  • 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.
  • 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 abscess: Pus accumulating into an abscess on the brain
  • Brain cancer: Cancer of 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.
  • 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 rare form of infant lung disease that usually occurs as a complication of ventilator use in premature babies.
  • Bumetanide -- Teratogenic Agent: There is strong evidence to indicate that exposure to Bumetanide 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.
  • 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: A rare genetic connective tissue disorder characterized by diaphyseal dysplasia, muscle weakness and leg pain.
  • 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.
  • 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 Ataxia, Deafness and Narcolepsy: A rare condition characterized by the association of narcolepsy, deafness and cerebellar ataxia. Narcolepsy is a sleep disorder where characterized by the classic tetrad of excessive daytime sleepiness, cataplexy, hypnagogic hallucinations and sleep paralysis.
  • 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.
  • Cerebrovascular Conditions: Conditions of the brain's blood vessels including stroke.
  • 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 thigh 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
  • 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 10, Monosomy 10p:
  • 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 13, Partial Monosomy 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.
  • 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.
  • Chronic interstitial nephritis:
  • 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: Birth defect of lip and mouth.
  • 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.
  • Coats Disease: A rare condition where a small group of dilated blood vessels (telangiectasia) form in the retina of one eye and can result in retinal detachment. It is believed to be a more severe form of Leber military aneurysm.
  • 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.
  • Colobomatous microphthalmia -- heart disease -- hearing loss: A very rare syndrome characterized by small eyes, heart disease and hearing loss.
  • Communication conditions: Medical conditions affecting the communication systems, such as speech.
  • Communication disorders: Various disorders limiting the ability to communicate (including developmental communication disorders)
  • 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.
  • Congenital Toxoplasmosis: Fetal infection with toxoplasmosis.
  • Congenital cytomegalovirus: Fetal infection with cytomegalovirus.
  • Congenital deafness: Deafness at birth.
  • 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).
  • Congenital hypothyroidism: A condition in infancy or early childhood due to an in-utero deficiency of thyroid hormones that can be caused by genetic or environmental factors, such as thyroid dysgenesis or hypothyroidism in infants of mothers treated with thiouracil during pregnancy.
  • Congenital syphilis: Syphilis inherited from mother during pregnancy.
  • Connexin 26 anomaly: A genetic mutation that causes congenital deafness.
  • 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.
  • 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.
  • 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: A easily transmissible viral infection that is common but generally causes no symptoms except in infants and people with weakened immune systems.
  • 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 Sanctis-Cacchione syndrome: A rare genetic ectodermal disorder characterized by sunlight sensitivity, skin atrophy and pigmentation and skin tumors as well neurologic involvement.
  • Deafness: Inability to hear sounds.
  • 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 thigh 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 -- 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 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, 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 45: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 45 involves a defect on chromosome 1q43-q44.
  • 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 51: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 51 involves a defect on chromosome 11p13-p12.
  • 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 63: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 63 involves a defect on chromosome chromosome 11 at locations q13.3-q13.4 and 13.2-q13.3.
  • 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 71: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 71 involves a defect on chromosome 8p22-p21.3.
  • Deafness, autosomal recessive 72: Recessively inherited hearing loss involving a defect on chromosome 19p13.3.
  • Deafness, autosomal recessive 77: Recessively inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 77 involves a defect on chromosome 18q12-q21.
  • 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 (2) (p13-p11.2): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Del (3) (q29-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
  • 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.
  • 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 of the Short Arm of Chromosome 1: A condition characterized by deletion of the short arm of chromosome 1
  • 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.
  • Developmental problems: Physical or mental development difficulty.
  • Dextrocardia-bronchiectasis-sinusitis: A genetic disorder characterized by sinusitis, bronchiectasis and situs inversus.
  • 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.
  • 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 and Hearing conditions: Medical conditions affecting the ears or the hearing systems.
  • Ear conditions: Any condition that affects the ear
  • Ear foreign body: Having a "foreign body" stuck inside the ear
  • Ear infection: An infection that affects the ear
  • Ear infection (infant): An infection that affects the ear
  • Ear inflammation: Inflammation of the ear - may involve the middle and inner ear.
  • 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.
  • Eclampsia: Eclampsia is the development of seizures or coma in pregnant women suffering from high blood pressure. Eclampsia is a serious condition which requires urgent medical treatment. Eclampsia may be associated with moderate as well as significant increases in blood pressure. The blood pressure can return to normal after delivery or may persist for a period of time.
  • 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.
  • 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.
  • Enlarged adenoids: Enlargement of the adenoid glands, which lie in the oropharynx.
  • Epilepsy: Brain condition causing seizures or spasms.
  • 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: Genetic fat storage disorder
  • 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 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.
  • 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 pattern of mental and physical birth defects caused by excessive alcohol use during pregnancy. The range and severity of the symptoms may vary greatly.
  • 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: Elevation of the body temperature above the normal 37 degrees celsius
  • 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: Fluid accumulation in the middle ear
  • 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 Syndrome: A congenital condition which affects the eyes, ears and vertebrae
  • 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 Conditions: Conditions that affect the head
  • Head injury: An injury to the head
  • Hearing Impairment: Reduced ability to hear sounds.
  • Hearing impairment: Reduced ability to hear sounds.
  • 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.
  • Hurler syndrome:
  • Hydranencephaly: A very rare condition where fluid replaces a portion of the brain.
  • Hydrocephalus: A rare condition where the normal flow of cerebrospinal fluid is impaired by dilated brain ventricles which causes the fluid to accumulate in the skull and hence result in increased brain pressure.
  • Hypobetalipoproteinaemia -- ataxia -- hearing loss: A rare disorder characterized by the association of low blood betalipoprotein level, ataxia and hearing loss.
  • 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, 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.
  • 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.
  • 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.
  • Jaundice: Bile or liver problem causing yellowness.
  • 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.
  • 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.
  • Keratoderma palmoplantar -- deafness: A very rare syndrome characterized by deafness and a horny superficial growth on the palms and soles.
  • 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 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.
  • 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.
  • 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.
  • 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, 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.
  • Mastoiditis: Inflammation of a bone behind the ear
  • 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 (cerebellar ataxia) and hearing loss.
  • Measles: Once common viral infection now rare due to vaccination.
  • Megarbane-Loiselet syndrome: A rare syndrome characterized mainly by deafness and branchial anomalies.

 

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