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Glossary for Speech and communication conditions

  • AIDS Dementia Complex: A brain disorder that occurs in AIDS patients.
  • 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.
  • Age-Related Hearing Impairment: Progressive deterioration of hearing ability that affects both ears and occurs with aging. The hearing loss is sensorineural in nature and is most noticeable at high frequencies. There are a number of risk factors associated with age-related hearing impairment: smoking, ototoxic medication, cardiovascular disease and exposure to loud noise. It is estimated that a third of people over the age of 60 have some hearing loss and more than half of people over the age of 75 years have hearing loss.
  • Age-Related Hearing Impairment 1: Progressive deterioration of hearing ability that affects both ears to the same degree and occurs with aging. There are a number of risk factors associated with age-related hearing impairment: smoking, ototoxic medication, cardiovascular disease and exposure to loud noise. Type 1 is linked to an anomaly on chromosome 8q24.13-q24.22.
  • Age-Related Hearing Impairment 2: Progressive deterioration of hearing ability that affects both ears to the same degree and occurs with aging. There are a number of risk factors associated with age-related hearing impairment: smoking, ototoxic medication, cardiovascular disease and exposure to loud noise. Type 2 is linked to an anomaly on chromosome 3p26.1-25.1.
  • Akinetic mutism: Damage to parts of the brain (e.g. demyelinization and hydrocephalus) which results in a person being unable to talk or move despite the fact that they appear alert at times.
  • Alopecia, anosmia, deafness, hypogonadism syndrome: A rare
  • Alzheimer disease 10: An inherited form of Alzheimer's. Type 10 is caused by a genetic defect on chromosome 10p13.
  • Alzheimer disease 12: An inherited form of Alzheimer's. Type 12 is caused by a genetic defect on chromosome 8p12-q22.
  • Alzheimer disease 13: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q21. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease 14: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q25. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease 15: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 3q22-q24. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease 16: Alzheimer disease 16 (late-onset) is a form of Alzheimer's disease that is linked to a defect on chromosome Xq21.3. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease 2, late-onset: Alzheimer disease 2 (late-onset) is a form of Alzheimer's disease that is linked to a defect on chromosome 19q13.2. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease 3, (early-onset Alzheimer disease): Alzheimer disease 3 is an early-onset form of Alzheimer's disease that is linked to a defect on chromosome 14q24.3. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease 5: An inherited form of Alzheimer's. Type 5 has a late onset and is caused by a genetic defect on chromosome 12p11.
  • Alzheimer disease 6: A genetic form of Alzheimer's. Type 6 has a late onset and is caused by a genetic defect on chromosome 10q24.
  • Alzheimer disease 7: An inherited form of Alzheimer's. Type 7 is caused by a genetic defect on chromosome 10p13.
  • Alzheimer disease 8: An inherited form of Alzheimer's. Type 8 is caused by a genetic defect on chromosome 20p.
  • Alzheimer disease 9: A genetic form of Alzheimer's. Type 9 has a late onset and is caused by a genetic defect on chromosome 19p13.2.
  • Alzheimer disease type 1: A degenerative brain disease characterized primarily by progressive dementia. Type 1 has an early onset (starts before the age of 65). It is caused by mutations in the APP gene which results in the production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.
  • Alzheimer disease type 2: A degenerative brain disease characterized primarily by progressive dementia. Type 2 has a late onset - starts after the age of 65. It is believed to be caused by a combination of genetic mutations and environmental and lifestyle factors. The condition occurs when there is excessive production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.
  • Alzheimer disease type 4: A degenerative brain disease characterized primarily by progressive dementia. Type 4 has an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene which results in the production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.
  • Alzheimer disease, early-onset, with cerebral amyloid angiopathy: An early-onset form of Alzheimer's disease that is linked to a defect on chromosome 21q21. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial: A degenerative brain disease characterized primarily by progressive dementia. The familial form is very rare and is completely inherited and has an early onset (usually in the 4th decade). It occurs when there is excessive production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.
  • Alzheimer disease, familial, 1: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 21q. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 11: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 9p22.1. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 3, with spastic paraparesis and apraxia: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and apraxia. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques: This form of Alzheimer's is an early-onset form of Alzheimer's that is linked to a defect on chromosome 14q24.3. It is characterized by features which are atypical for Alzheimer's - spastic paraparesis which occurs before the dementia symptoms and unusual plaques in the brain. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, 4: An inherited form of Alzheimer's disease that is linked to a defect on chromosome 1q31-q42. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Alzheimer disease, familial, type 3: A degenerative brain disease characterized primarily by progressive dementia. Type 3 has an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene which results in the production of a toxic protein (amyloid beta peptide) in the brain which collects into clumps (amyloid plaques) in the brain. These plaques cause damage to nerve cells in the brain.
  • Alzheimer's Disease: Dementia-causing brain disease mostly in seniors and the elderly.
  • Alzheimer's disease without Neurofibrillary tangles: A form of Alzheimer's that involves only plaques and no neurofibrillary tangles. This form tends to have an older age of onset and death and a shorter disease duration.
  • Angelman syndrome: A rare genetic disorder characterized by a puppet-like gait, fits of laughter and characteristic facial features.
  • Angelman-Like Syndrome, X-linked: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
  • Aphasia: Language difficulty usually from brain damage or stroke.
  • Aphasia, Broca: A language disorder that originates from damage or maldevelopment to the part of the brain known as Broca's area. Other parts of the brain may also be affected.
  • Aphasia-epilepsy, acquired: A rare childhood neurological disorder characterized by aphasia, epileptic seizures and inability to recognize sounds. The symptoms may develop quickly or gradually.
  • Apraxia: A neurological disorder where the sufferer is unable to perform familiar actions such as tying shoelaces even though they understand the action required.
  • Aprosodia: A term used to describe the impaired ability to understand or use emotions in oral language.
  • 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.
  • Articulation Disorders: Errors made in speech sounds that consistently occur irrespective of the context. Examples of articulation disorders includes lisps, substitution of the "y" sound for "l" and difficulty with blends involving r, l or s (e.g. brick, clip, slap). The anomaly is common in young children but if it persists after the age of five, the condition needs to be examined closer. The anomaly may be caused by such things as facial muscle weakness.
  • Asemia: A term used to describe the inability to comprehend or use any sign or symbol including the oral and written signs and symbols of language. For example patients are unable to understand hand gestures or to use the as a form of expression.
  • Asperger Syndrome, Susceptibility to, 1: Asperger Syndrome is considered to be a mild form of autism and manifests in symptoms such as problems with social interactions and repetitive behavior patterns and interests. Language and cognition skills are considerable less affected than in autism. Researchers have discovered that there are a number genetic anomalies linked to an increased risk of developing Asperger Syndrome. Type 1 is linked to a defect on chromosome 3q25-q27.
  • Asperger Syndrome, Susceptibility to, 2: Asperger Syndrome is considered to be a mild form of autism and manifests in symptoms such as problems with social interactions and repetitive behavior patterns and interests. Language and cognition skills are considerable less affected than in autism. Researchers have discovered that there are a number genetic anomalies linked to an increased risk of developing Asperger Syndrome. Type 2 is linked to a defect on chromosome 17p13.
  • Asperger Syndrome, Susceptibility to, 3: Asperger Syndrome is considered to be a mild form of autism and manifests in symptoms such as problems with social interactions and repetitive behavior patterns and interests. Language and cognition skills are considerable less affected than in autism. Researchers have discovered that there are a number genetic anomalies linked to an increased risk of developing Asperger Syndrome. Type 3 is linked to a defect on chromosome 1q21-q22.
  • Asperger Syndrome, X-linked, Susceptibility to, 1: Asperger Syndrome is considered to be a mild form of autism and manifests in symptoms such as problems with social interactions and repetitive behavior patterns and interests. Language and cognition skills are considerable less affected than in autism. Researchers have discovered that there are a number genetic anomalies linked to an increased risk of developing Asperger Syndrome. X-linked type 1 is linked to a defect on chromosome Xq13.
  • Asperger Syndrome, X-linked, Susceptibility to, 2: Asperger Syndrome is considered to be a mild form of autism and manifests in symptoms such as problems with social interactions and repetitive behavior patterns and interests. Language and cognition skills are considerable less affected than in autism. Researchers have discovered that there are a number genetic anomalies linked to an increased risk of developing Asperger Syndrome. X-linked type 1 is linked to a defect on chromosome Xp22.3.
  • Asperger syndrome: A neuropsychiatric disorder mainly involving the inability to understand and becoming involved in social interaction.
  • Ataxia -- oculomotor apraxia, type 1: A nerve disorder which affects the motor nerves and results in movement problems which includes the eyes. Gait problems are usually the first symptom and this is followed by speaking difficulty, intention tremor and then eye movement problems.
  • Ataxia-deafness syndrome: A rare syndrome characterized by the association of ataxia with deafness.
  • Ataxia-oculomotor apraxia syndrome: A nerve disorder which affects the motor nerves and results in movement problems which includes the eyes. Gait problems are usually the first symptom and this is followed by speaking difficulty, intention tremor and then eye movement problems.
  • Auditory Diseases, Central: A disorder where a person is unable to understand, recognize or differentiate sounds despite the fact that hearing and intelligence are normal.
  • Auditory Processing Disorder: Failure of the brain to correctly process sound.
  • Auditory perceptual disorder: A hearing disorder where the brain is unable to properly process or interpret auditory information it receives from the hearing organs.
  • Autism: Childhood mental condition with social and communication difficulties.
  • Autism, Susceptibility to, 15: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 15 is linked to a genetic defect on chromosome 7q35-q36.
  • Autism, X-linked, susceptibility to, 1: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. X-Linked type 1 is linked to a genetic defect on chromosome Xq13.
  • Autism, X-linked, susceptibility to, 2: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. X-Linked type 2 is linked to a genetic defect on chromosome Xp22.3.
  • Autism, X-linked, susceptibility to, 3: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. X-Linked type 3 is linked to a genetic defect on chromosome Xp22.3.
  • Autism, susceptibility to, 1: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 1 is linked to a genetic defect on chromosome 7q22.
  • Autism, susceptibility to, 10: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 10 is linked to a genetic defect on chromosome 7q36.
  • Autism, susceptibility to, 11: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 11 is linked to a genetic defect on chromosome 1q24.
  • Autism, susceptibility to, 12: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 12 is linked to a genetic defect on chromosome 21p13-q11.
  • Autism, susceptibility to, 13: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 13 is linked to a genetic defect on chromosome 12q14.
  • Autism, susceptibility to, 14: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 14 is linked to a genetic defect on chromosome 16p11.2.
  • Autism, susceptibility to, 3: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 3 is linked to a genetic defect on chromosome 13q14.
  • Autism, susceptibility to, 4: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 4 is linked to a genetic defect on chromosome 15q11.
  • Autism, susceptibility to, 5: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 5 is linked to a genetic defect on chromosome 2q.
  • Autism, susceptibility to, 6: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 6 is linked to a genetic defect on chromosome 17q11.
  • Autism, susceptibility to, 7: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 7 is linked to a genetic defect on chromosome 17q21.
  • Autism, susceptibility to, 8: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 8 is linked to a genetic defect on chromosome 3q25-q27.
  • Autism, susceptibility to, 9: A developmental disorder characterized by an impaired ability to communicate with or relate to people or the environment around them and repetitive behavior. The severity of the disorder is variable. Researchers have discovered a number of genetic abnormalities linked to an increased susceptibility of developing autism. Type 9 is linked to a genetic defect on chromosome 7q31.
  • Bianchi's syndrome: Damage to a part of the brain (left parietal lobe) resulting in the loss of ability to read (alexia), comprehend language (sensory aphasia) and inability to carry out previously learned purposeful movements (apraxia). The damage may be caused by such things as stroke, trauma and cancer. The type and severity of symptoms are determined by the exact location and extent of damage to the brain.
  • Blepharophimosis syndrome Ohdo type: An extremely rare syndrome characterized primarily by mental retardation and eye anomalies. Only a handful of cases have been reported.
  • Blueberry syndrome: A disorder involving language and behavioral problems. There is no detectable damage to the brain or emotional disorders.
  • Bogart-Bacall syndrome: A voice disorder caused by vocal cord abuse or overuse. It most often occurs in singers or people who regularly speak outside their normal vocal range.
  • Brachycephaly -- deafness -- cataract -- microstomia -- mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
  • Carcinoma of the vocal tract: Cancer of the vocal cords in the larynx.
  • Cardiomyopathy diabetes deafness: A rare syndrome characterized by the association of heart muscle disease, diabetes and deafness.
  • Cat's cry: A chromosomal disorder marked by microcephaly, epicanthal folds, micrognathia, strabismus, mental and physical retardation, and a characteristic catlike whine
  • Cataract -- ataxia -- deafness: A rare syndrome characterized by cataracts, ataxia and progressive 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.
  • 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.
  • 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.
  • 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 -- coloboma -- deafness: A genetic disorder characterized by a combination of features including cleft palate, coloboma and deafness.
  • Cluttering: A speech defect where the speech is rapid, disordered and lacks fluency. It is a common occurrence in children during their initial speech development when they find difficulty finding the right words to express themselves.
  • 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 Bilateral Perisylvian Syndrome: A condition apparent at birth which causes partial paralysis, pseudobulbar palsy, dysarthria and dysohagia
  • Congenital deafness: Deafness at birth.
  • Corneal anesthesia deafness intellectual deficit: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
  • Corneal anesthesia deafness mental retardation: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
  • Corneal dystrophy -- perceptive deafness: A very rare syndrome characterized by eye problems and deafness. Hearing starts to deteriorate during the 20's and 30's.
  • Corneal dystrophy and perceptive deafness: A very rare syndrome characterized by eye problems and deafness. Hearing starts to deteriorate during the 20's and 30's.
  • Corneal hypesthesia deafness intellectual deficit: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
  • Cri-du-chat syndrome: A rare genetic disorder where a small portion of the short arm (p) of chromosome 5 is missing. The condition is characterized by a high-pitched cry which is similar to a cat's cry.
  • 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 -- craniofacial syndrome: A very rare syndrome characterized mainly by deafness and abnormalities of the skull and face.
  • Deafness -- enamel hypoplasia -- nail defects: A very rare syndrome characterized mainly by deafness, tooth enamel abnormalities and nail defects.
  • 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 -- onychodystrophy -- osteodystrophy -- mental retardation: A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R).
  • Deafness -- pili torti -hypogonadism: An inherited condition characterized by twisted hairs, hypogonadism and nerve deafness.
  • Deafness -- skeletal dysplasia -- lip granuloma: A very rare syndrome characterized mainly by deafness, skeletal abnormalities, mental retardation and full lips.
  • Deafness -- thyroid hormone resistance: An inherited disorder where the body fails to respond to thyroid hormone even though there is sufficient quantities of the hormone.
  • Deafness conductive -- ptosis -- skeletal anomalies: A very rare syndrome characterized mainly by deafness, droopy eyelids and skeletal abnormalities.
  • Deafness conductive stapedial ear malformation facial palsy: A rare disorder characterized by conductive deafness, malformed external ears and facial paralysis. The deafness is due to an abnormal bone (stapes) in the inner ear which vibrates to transmit sound messages.
  • 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 oligodontia syndrome: A rare disorder characterized by missing teeth and deafness.
  • Deafness onychodystrophy dominant form: A rare dominantly inherited disorder characterized by deafness from birth, deformed nails and
  • 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 symphalangism: A rare genetic disorder characterized by deafness, distinctive facial features and fusion of various bones in the fingers, toes and upper arms. Joint ankylosis starts in early childhood and is progressive.
  • Deafness, Autosomal Dominant 2B: A dominantly inherited form of progressive hearing loss that involves a defect on chromosome 1p35.1. Males tend to be more severely affectd than females.
  • Deafness, Autosomal Dominant 59: A dominantly inherited form of non-progressive hearing loss that involves a defect on chromosome 11p14.2-q12.3. The hearing loss is present at birth, affects both ears and ranges from severe to profound.
  • Deafness, Autosomal Recessive 1B: A recessively inherited form of progressive hearing loss that involves a defect on chromosome 13q12. Males tend to be more severely affected than females.
  • Deafness, Conductive Stapedial, With Ear Malformation and Facial Palsy: A rare syndrome characterized by an ear abnormality (due to a stapedial defect) which causes conductive deafness as well as malformed external ears and facial paralysis. The degree and extent of facial paralysis is variable - can affect only one side of face or may be a weakness rather than a paralysis.
  • Deafness, Conductive with Stapes Fixation: An inherited inner ear defect (stapes fixation) which causes progressive hearing loss. A perilymphatic gusher can occur as a complication of surgery to correct the inner ear defect. The severity and rate of progression of the hearing loss is variable.
  • Deafness, X-Linked 1: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers. The defective gene (DFN2) occurs on chromosome Xq22.
  • Deafness, X-Linked 2: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers. Surgery to correct the underlying inner ear defect can lead to the development of a perilymphatic gusher which can further impair hearing. Type 2 is linked to a defect on chromosome Xq21.1.
  • Deafness, X-Linked 2, Sensorineural Congenital: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers. The defective gene (DFN2) occurs on chromosome Xq22.
  • Deafness, X-Linked 3: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers. Surgery to correct the underlying inner ear defect can lead to the development of a perilymphatic gusher which can further impair hearing. Type 3 is linked to a defect on chromosome Xp21.2.
  • Deafness, X-Linked 4: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers. The defective gene (DFN2) occurs on chromosome Xp22.
  • Deafness, X-Linked 4, Sensorineural Congenital: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers. The defective gene (DFN2) occurs on chromosome Xp21.2.
  • Deafness, X-linked 5: A form of hearing loss inherited in a X-linked recessive manner.
  • Deafness, X-linked 6, progressive: A X-linked form of hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. The hearing loss is evident in males but females can be carriers. The defective gene (DFN2) occurs on chromosome Xp22.
  • 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 3A: A dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 3A involves a defect in the connexin-26 gene on chromosome 13q11-q12.
  • Deafness, autosomal dominant 3B: A dominantly inherited form of hearing loss that involves a defect on chromosome 13q12.
  • 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 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 24: Dominantly inherited hearing loss that occurs without any other symptoms - i.e. is not associated with any other condition. Type 24 involves a defect on chromosome 4q35-qter.
  • 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.
  • Decreased tactile fremitus: Medical term for the reduced vibration felt in the chest when a hand is placed on the chest while the patient speaks. It can be caused by conditions such as COPD, bronchial obstruction, pleural effusion, pneumothorax and other conditions that can interfere with the transmission of vibrations through the chest.
  • Decreased vocal fremitus: A medical term for reduced palpable variations during speech. It can be a sign of fluid on the lungs or a collapsed lung.
  • Delayed speech -- facial asymmetry -- strabismus -- ear lobe creases: A very rare syndrome characterized mainly by speech delay, crease in the ear lobe, asymmetrical face and cross-eyed.
  • Dementia: Various mental impairment conditions.
  • Dementia With Lewy Bodies: Second most frequent cause of dementia in elderly adults.
  • Dementia, familial British: A rare, early-onset inherited form of dementia caused by deposits of amyoid substances (amyloid) and degenerative nerve changes in the brain.
  • 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.
  • Developmental dysphasia, familial: A very rare syndrome characterized mainly by a speech defect where a child has difficulty developing their expressive language skills. The problem is not associated or caused by any other abnormality.
  • Developmental malformations -- deafness -- dystonia: A rare syndrome characterized mainly by deafness, movement disorder and malformations that occur during fetal development.
  • 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.
  • Down's Syndrome associated Alzheimer's disease: Early-onset Alzheimer's is more prevalent in Down's Syndrome sufferers than in the general population. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Dwarfism -- deafness -- retinitis pigmentosa: A very rare disorder characterized by deafness, dwarfism and an eye disorder.
  • Dyslexia: Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to be related to problems with perception capability in certain parts of the brain. Researchers have discovered that there are a number of genes linked to an increased susceptibility to dyslexia.
  • Dyslexia, Susceptibility to, 1: Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to be related to problems with perception capability in certain parts of the brain. Researchers have discovered that there are a number of genes linked to an increased susceptibility to dyslexia. Genetic forms of dyslexia are considered to be primary dyslexia and patients tend to have problems with reading, writing and spelling even as adults. Type 1 is linked to a defect on chromosome 15q21.
  • Dyslexia, Susceptibility to, 2: Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to be related to problems with perception capability in certain parts of the brain. Researchers have discovered that there are a number of genes linked to an increased susceptibility to dyslexia. Genetic forms of dyslexia are considered to be primary dyslexia and patients tend to have problems with reading, writing and spelling even as adults. Type 2 is linked to a defect on chromosome 6p22.2.
  • Dyslexia, Susceptibility to, 3: Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to be related to problems with perception capability in certain parts of the brain. Researchers have discovered that there are a number of genes linked to an increased susceptibility to dyslexia. Genetic forms of dyslexia are considered to be primary dyslexia and patients tend to have problems with reading, writing and spelling even as adults. Type 3 is linked to a defect on chromosome 2p16-p15.
  • Dyslexia, Susceptibility to, 4: Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to be related to problems with perception capability in certain parts of the brain. Researchers have discovered that there are a number of genes linked to an increased susceptibility to dyslexia. Genetic forms of dyslexia are considered to be primary dyslexia and patients tend to have problems with reading, writing and spelling even as adults. Type 4 is linked to a defect on chromosome 6q11.2-q12.
  • Dyslexia, Susceptibility to, 5: Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to be related to problems with perception capability in certain parts of the brain. Researchers have discovered that there are a number of genes linked to an increased susceptibility to dyslexia. Genetic forms of dyslexia are considered to be primary dyslexia and patients tend to have problems with reading, writing and spelling even as adults. Type 5 is linked to a defect on chromosome 3p12-q13.
  • Dyslexia, Susceptibility to, 6: Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to be related to problems with perception capability in certain parts of the brain. Researchers have discovered that there are a number of genes linked to an increased susceptibility to dyslexia. Genetic forms of dyslexia are considered to be primary dyslexia and patients tend to have problems with reading, writing and spelling even as adults. Type 6 is linked to a defect on chromosome 18p11.2.
  • Dyslexia, Susceptibility to, 7: Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to be related to problems with perception capability in certain parts of the brain. Researchers have discovered that there are a number of genes linked to an increased susceptibility to dyslexia. Genetic forms of dyslexia are considered to be primary dyslexia and patients tend to have problems with reading, writing and spelling even as adults. Type 7 is linked to a defect on chromosome 11p15.5.
  • Dyslexia, Susceptibility to, 8: Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to be related to problems with perception capability in certain parts of the brain. Researchers have discovered that there are a number of genes linked to an increased susceptibility to dyslexia. Genetic forms of dyslexia are considered to be primary dyslexia and patients tend to have problems with reading, writing and spelling even as adults. Type 8 is linked to a defect on chromosome 1p36-p34.
  • Dyslexia, Susceptibility to, 9: Dyslexia is a name for a condition where people have difficulty with reading and writing. People with dyslexia have normal intelligence and are not in any way mentally retarded or intellectually challenged. The difficulty with certain tasks is believed to be related to problems with perception capability in certain parts of the brain. Researchers have discovered that there are a number of genes linked to an increased susceptibility to dyslexia. Genetic forms of dyslexia are considered to be primary dyslexia and patients tend to have problems with reading, writing and spelling even as adults. Type 9 is linked to a defect on chromosome Xq27.3.
  • Dysphasic dementia, hereditary: An inherited form of dementia caused by nerve degeneration.
  • Earlobes thickened conductive deafness from incudo: An inherited ear disorder characterized by an inner ear abnormality, impaired hearing and thickened earlobes. The condition is present at birth and is not progressive.
  • Early-onset Alzheimer's: Early-onset Alzheimer's is a form of Alzheimer's disease that is linked to genetic defects or occurs in a familial pattern. It is not as common as the non-inherited form of Alzheimer's - occurs in up to 90% of Alzheimer sufferers. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • East Syndrome: A rare syndrome characterized mainly by mental retardation, deafness, ataxia and electrolyte imbalance.
  • Ectomorphic Habitus -- Severe Mental Retardation -- Characteristic Face: A rare condition characterized by severe mental retardation, underweight build and a characteristic facial appearance.
  • Elective mutism: A rare psychiatric disorder where a child chooses not to speak in a social setting even though they are capable of speaking and often do so at home.
  • Enchondromatosis-dwarfism-deafness: A rare syndrome characterized mainly by short limbs, short stature, asymmetrical limbs, deafness and abnormal bone development.
  • Epiphyseal dysplasia -- hearing loss -- dysmorphism: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
  • Escher-Hirt syndrome: A very rare syndrome characterized by thick earlobes and conductive deafness due to an inner ear structure abnormality. The deafness is non-progressive and occurs at birth.
  • Expressive Aprosodia: A term used to describe the impaired ability to convey emotions such as joy and anger changes in voice which results in the patient using a flat, emotionless voice. The condition results from damage to a particular part of the brain.
  • Familial Forms of Alzheimer's Disease: Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour. Familial forms of the disease tend to run in families and are linked to mutations on various genes. Chromosome 1, 14 19 and 21 are the main chromosomes where mutations resulting in Alzheimer's are located..
  • Familial deafness: Deafness that tends to run in families (familial) and has genetic origins.
  • Floating Harbor Syndrome: A rare genetic disorder characterized by growth deficiency, typical facial appearance and speech delay.
  • Frontotemporal dementia: A degenerative brain disease involving frontal and temporal brain lobes resulting in dementia. Degeneration of the frontal lobe causes behavioral and personality changes degeneration of the temporal lobe causes semantic dementia.
  • Frontotemporal dementia, ubiquitin-positive: A rare inherited neurodegenerative disorder characterized primarily by progressive social, behavioral and language deterioration due to changes in the frontotemporal portion of the brain.
  • Generalized lipodystrophy with mental retardation, deafness, short stature and slender bones: A recessively inherited disorder characterized by short stature, mental retardation, deafness, slender bones and degeneration of the body's fat tissue.
  • Giacheti Syndrome: A rare syndrome characterized by learning disabilities, language problems and an unusual physical appearance involving tall stature and long hands and feet.
  • Gigantism advanced bone age hoarse cry: A very rare condition characterized by the association of advanced bone age, a hoarse cry and gigantism. Variable other symptoms are also present.
  • Hearing Impairment: Reduced ability to hear sounds.
  • 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.
  • Hoarseness: Reduction or loss of voice
  • Hyperfunction voice disorder: Impairment of voice quality through damage to associated structures. It is most often caused by overuse of the voice or constant throat clearing as a result of such things as gastroesophageal reflux.
  • Hyperkinetic dysarthria: A voice disorder where damage to part of the brain called the basal ganglia affects muscle tone and causes involuntary movements of the muscles involved in speech. May be caused by cancer, infections and Huntington's disease as well as others.
  • Hypobetalipoproteinaemia -- ataxia -- hearing loss: A rare disorder characterized by the association of low blood betalipoprotein level, ataxia and hearing loss.
  • Hypokinetic dysarthria: A motor speech disorder caused by damage to the part of the brain called the basal ganglia which in turn affects the muscles involved in speech. Causes include infection. Stroke, tumor and ataxic cerebral palsy.
  • Hypopigmentation/Deafness of Tietz: Tietz syndrome is a relatively rare condition characterized by deafness and albinism. It should not be confused with the similarly named Tietz's syndrome which involves inflammation of chest cartilage.
  • Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia: An inherited muscle wasting disorder associated with dementia and bone disease.
  • 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.
  • Jervell and Lange-Nielsen Syndrome: A rare condition characterized by congenital deafness and a long Q-T interval which is where the heart takes longer than normal to recharge after a heartbeat.
  • Kahrizi Syndrome: A rare syndrome and characterized by the association of mental retardation, cataracts, coloboma and kyphosis. The condition is inherited in an autosomal recessive manner and was observed in 3 siblings whose parents were possibly related.
  • Keratitis Ichthyosis Deafness Syndrome: A rare genetic ectodermal disorder characterized by keratitis, skin lesions and sensorineural deafness. The deafness and skin redness are usually present at birth and the corneas of the eye are gradually destroyed by keratitis which can result in loss of vision.
  • Keratoderma palmoplantar -- deafness: A very rare syndrome characterized by deafness and a horny superficial growth on the palms and soles.
  • Klippel Feil Syndrome: A rare congenital disorder characterized by abnormal fusion of two or more vertebrae in the neck. The disorder is often associated with other abnormalities but their incidence is highly variable.
  • Klippel Feil deformity conductive deafness absent vagina: A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature.
  • Kramer-Pollnow disease: A neurological condition where young children develop hyperactivity followed by mental retardation, reduced speech efficiency and anxiety.
  • Landau-Kleffner Syndrome: A neurological disorder which results in aphasia, epileptic seizures and inability to recognize sounds.
  • Laplane-Fontaine-Lagardere syndrome: A very rare syndrome characterized mainly by very short stature and progressive stiffness of joints including the spine and hips.
  • Laryngeal papillomatosis: A rare disease characterized by the development of tumors in the larynx, vocal cords or respiratory tract. The disease is caused by the human papilloma virus. Symptoms will vary according to the size, location and aggressiveness of the tumor.
  • Laryngomalacia: A defect where the larynx is abnormally soft which affects voice quality and can cause breathing problems. The larynx is so soft that when inhalation occurs, the larynx collapses and obstructs the breathing passage.
  • Late-onset Alzheimer's: Late-onset Alzheimer's is a form of Alzheimer's disease that doesn't appear to be linked to any genetic defects or familial pattern. It is by far the most common form of Alzheimer's - occurs in up to 90% of Alzheimer sufferers. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Latham-Munro syndrome: A rare inherited syndrome characterized by deafness and mutism at birth, epilepsy and myoclonus (muscle twitching).
  • Learning disabilities: Various developmental problems impairing learning or schooling.
  • Lop ears, Micrognathia and Conductive Hearing Loss: A very rare condition (described in only a few families) characterized by a small jaw, conductive hearing loss and abnormal ears.
  • MASA Syndrome: A very rare inherited disorders characterized by mental retardation (M), aphasia (A), shuffling walk (S) and adducted thumbs (A). The symptoms are variable from case to case but mental retardation is a consistent feature.
  • Madokoro-Ohdo-Sonoda syndrome: A rare disorder characterized by the absence of all four limbs, an unusual face and retarded development.
  • 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.
  • Maumenee syndrome: A rare inherited disorder characterized by deafness at birth and corneal dystrophy which impairs vision.
  • Maxillofacial dysostosis: A rare inherited disorder characterized by jaw, ear and eye abnormalities as well as speech problems.
  • Mehes syndrome: A very rare syndrome characterized mainly by delayed speech, an asymmetrical face, crossed eyes and ear lobe creases.
  • Mende syndrome: A rare condition characterized by congenital deafness, mutism, partial albinism and a mongoloid face as well as other anomalies.
  • Mental mixed retardation -- deafness -- clubbed digits: A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers.
  • Mental retardation -- short stature -- deafness -- genital: A very rare syndrome characterized mainly by mental retardation, short stature, deafness and genital abnormalities.
  • Mental retardation, X-linked -- dystonia -- dysarthria: A very rare X-linked disorder characterized by the association of mental retardation with dystonia (movement disorder) and dysarthria (speech disorder).
  • Metaphyseal dysostosis mental retardation conductive deafness: A rare, recessively inherited disorder characterized by mental retardation, deafness and skeletal abnormalities.
  • Microcephaly -- deafness syndrome: A very rare syndrome characterized mainly by a small head and deafness.
  • Microdontia -- type I microtia -- deafness: A rare syndrome characterized mainly by small dears, small teeth and deafness.
  • Microtia, meatal atresia and conductive deafness: A rare disorder characterized by very small right ear and conductive deafness. Muscle paralysis on the right side of the soft palate may also be present.
  • Molarization of anterior teeth deafness: A very rare condition characterized by the association of deafness with molarization of the anterior teeth.
  • Multi-Infarct Dementia: Dementia due to brain blood clots and strokes.
  • Myoclonus, cerebellar ataxia, deafness: A very rare inherited condition characterized by progressive deafness followed by neurological symptoms such as seizures and incoordinated movements.
  • Nephritis, Familial, without Deafness or Ocular Defect: A progressive kidney disease characterized by the presence of high blood pressure.
  • Nephrosis -- deafness -- urinary tract -- digital malformation: A very rare syndrome characterized mainly by kidney disease, deafness and abnormalities of the urinary tract, fingers and toes.
  • Nerve deafness: A condition which is characterized by deafness caused by a problem with the neurological supply
  • Neurodegeneration With Brain Iron Accumulation 2: A rare, inherited, progressive neurological movement disorder where accumulation of iron in the brain causes degeneration of the nervous system. Type 2 is linked to a defect in the PLA2G6 gene on chromosome 22q13.1.
  • Neuropathy motor sensory type 2 deafness mental retardation: An inherited neurological disease characterized by the gradual degeneration of nerves which starts in the hands and feet and results in progressive numbness, muscle weakness and loss of function. Deafness and mental retardation are also involved.
  • Neuropathy, distal hereditary motor, type VIIA: An inherited neuromuscular disease that causes progressive muscle wasting and weakness in the limbs and vocal cord paralysis. There is no sensory impairment.
  • Neutropenia -- monocytopenia -- deafness: A very rare syndrome characterized mainly by deafness and a blood disorder.
  • Nevo syndrome: A genetic disorder characterized by excessive fetal growth, loose joints, kyphosis and impaired speech and motor development.
  • Noise-Induced Hearing Loss: Hearing loss from loud noise exposure.
  • Nonsyndromic deafness: Hearing loss that occurs without any other symptoms - ie is not associated with any other condition.
  • Nonsyndromic hereditary hearing impairment: An inherited form of hearing impairment or deafness that is not associated with any other inherited problems.
  • Olivopontocerebellar atrophy -- deafness: A very rare syndrome characterized mainly by brain abnormalities and deafness.
  • Onychodystrophy -- deafness: A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R).
  • Optic atrophy -- ophthalmoplegia -- ptosis -- deafness -- myopathy: A rare syndrome characterized by a variety of eye problems, deafness and muscle disease.
  • Optic atrophy 1 and deafness: A form of progressive optic nerve dysfunction which results in impaired vision. Deafness is also present and vision loss is usually mild. Some patients develop neurological symptoms later in life. The disorder is caused by a genetic defect (3q28-q29).
  • Optic atrophy deafness neuropathy: A very rare syndrome characterized mainly by deafness, neuropathy and vision problems.
  • Optic atrophy opthalmoplegia ptosis deafness myopia: A rare syndrome characterized by the association of optic atrophy, ophthalmoplegia, droopy eyelids, deafness and myopia.
  • Optic atrophy, deafness and peripheral neuropathy: A very rare syndrome characterized mainly by degeneration of the optic nerve, hearing impairment and peripheral neuropathy. Not all patients will develop peripheral neuropathy.
  • Osteochondrodysplatic dwarfism -- deafness -- retinitis pigmentosa: A rare syndrome characterized by extreme dwarfism, deafness, progressive scoliosis and retinal pigment anomalies.
  • Parkinson's disease dementia, familial: A condition characterized by the association of parkinsonism with dementia. Eye muscle weakness and pyramidal signs also develop in the early stage of the disease.
  • Passos-Bueno syndrome: A very rare syndrome characterized by mental retardation, reduced muscle tone, incontinence, muscle wasting and inability to walk or speak.
  • Peripheral Neuropathy -- Intestinal Pseudo-Obstruction -- Deafness: A reported case involving chronic intestinal pseudo-obstruction, deafness from birth and peripheral neuropathy.
  • Pervasive developmental disorders: Group of developmental disorders often recognized before 3 years of age.
  • Phocomelia ectrodactyly deafness sinus arrhythmia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
  • Phocomelia ectrodactyly ear malformation deafness sinus arrhythmia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
  • Phonation break: Complete cessation of phonation which lasts only temporarily. It usually occurs after excessive use of the voice.
  • Pick's Disease: Degenerative dementia condition.
  • Polypoid degeneration: Vocal cord swelling due to a build up of fluid. Causes include Gastroesophageal reflux, smoking, hormonal problems and chronic voice abuse. The condition is most common in middle-aged or post-menopausal women who have a long history of smoking.
  • Presbylarynx: Loss of vocal fold tone and elasticity due to aging which affects voice quality.
  • Presenile dementia, Kraepelin type: A form of dementia that occurs prematurely and is inherited in a familial pattern.
  • Primary progressive aphasia: A rare neurological disorder characterized by progressive deterioration of language skills. There is no known cause.
  • Progressive hearing loss stapes fixation: A rare condition characterized by hearing loss, fixation of stapes (ear bone which causes conductive deafness if it becomes fixed and immovable) and reduced vestibular response.
  • Pure alexia: A disorder where the patient is able to spell and write but is unable to read. It is often caused by a damage to a part of the brain.
  • Quadrupedal gait, primitive speech and severe mental retardation: A rare, relatively new syndrome characterized by a four-limbed gait, flexed head and body, primitive speech and severe mental retardation. Sufferers fail to walk with an erect posture but move around by walking on their palms and straight legs.
  • Retinitis pigmentosa, deafness, mental retardation, hypogonadism: A rare genetic disorder characterized by mental retardation, reduced hormone production by the testes or ovaries, deafness and vision problems.
  • Retinitis pigmentosa-deafness syndrome: A condition characterized by the association of an eye disease and deafness.
  • Rett's syndrome: Autism-like behavioral syndrome in infant girls
  • Rett-like syndrome: A very rare syndrome characterized mainly by neurological problems such as mental retardation and seizures as well as various physical anomalies.
  • Right parietal lobe syndrome related Alzheimer's disease: Right parietal lobe syndrome related Alzheimer's disease is a variant of Alzheimer's disease that involves abnormalities in a particular part of the brain. It is characterized by Alzheimer's symptoms as well as problems with such things as construction (making things) and drawing as well as denial of their disabilities. Alzheimer's disease is a progressive disorder involving degeneration of the brain. The disease mainly affects brain functions involving thinking, memory, personality and behaviour.
  • Rigid mask-like face -- deafness -- polydactyly: A very rare syndrome characterized mainly by deafness, extra digits and a rigid, mask-like face.
  • Say-Carpenter syndrome: A very rare syndrome characterized mainly by wide set eyes, abnormally placed urethral opening in males and abnormal bone development.
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance: A rare syndrome characterized mainly by mental retardation, deafness, ataxia and electrolyte imbalance.
  • Sensorineural deafness: A condition which is characterized by deafness due to a sensineural deficit
  • Sensorineural hearing loss: Hearing loss due to abnormal functioning or damage to the hearing nerve or the cochlea (inner ear) or the part of the brain that processes sound. The hearing problem may be present at birth or may be acquired through such things as aging, excessive noise or diseases such as meningitis.
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis: A very rare syndrome characterized by progressive ataxia, eye muscle problems and a speech disorder (dysarthria).
  • Short stature -- microcephaly -- seizures -- deafness: A very rare syndrome characterized by the association of short stature, small head, seizures and deafness.
  • Short stature deafness neutrophil dysfunction: A very rare syndrome characterized by short stature, deafness and frequent infections due to abnormal neutrophils.
  • Short stature deafness neutrophil dysfunction dysmorphism: A rare condition characterized mainly by the association of short stature, deafnes, neutrophil dysfunction and an unusual facial appearance.
  • Smith-Magenis Syndrome: A rare syndrome characterized by various developmental problems as well as various physical defects primarily affecting the head and the face.
  • Soto's Syndrome: A rare hereditary disorder characterized by excessive growth during the first few years of life as well as various other mental and physical anomalies.
  • Spastic dysarthria: A motor speech disorder where damage to the brain or spinal cord affects the muscles involved in speech. Causes include stroke, tumor and accidents.
  • Spastic paraparesis deafness: A syndrome that is characterized with spastic paraparesis and deafness.
  • Speech impairment: Any impairment to ones ability to speek
  • Speech symptoms: Problems with speech or voice.
  • Spinocerebellar ataxia -- amyotrophy -- deafness: A very rare syndrome characterized by muscle weakness and wasting, ataxia and deafness.
  • Split hand -- split foot -- deafness: A syndrome characterized by deafness at birth and a hand and foot malformation.
  • Spondyloepiphyseal dysplasia -- brachydactyly and distinctive speech: A rare disorder characterized by an unusual voice, characteristic facial appearance and various skeletal abnormalities such as short hands, feet and digits.
  • Stroke-like aphasia: Inability to produce and comprehend language.
  • Stroke-like dysarthria: Difficulty in speaking and articulation of words and communication.
  • Stuttering: Speech difficulty involving repetition
  • Syngnathia -- cleft palate: A very rare syndrome characterized by the association of a cleft palate as well as the adhesion at birth of the upper and lower jaw by fibrous tissue.
  • Tourette Syndrome: A neurological disorder involving vocal and movement tics where where uncontrollable movements or verbal utterances are made.
  • Tucker syndrome: A rare syndrome characterized by vocal cord paralysis and droopy eyelids.
  • Unusual facies, short stature, enamel hypoplasia, stiff joints and high-pitched voice: A rare syndrome characterized mainly by short stature, stiff joints, unusual facial appearance, high-pitched voice and underdeveloped tooth enamel.
  • Unverricht-Lundborg disease: A rare inherited type of progressive myoclonus epilepsy which tends to cause symptoms during childhood. The involuntary muscle movements tend to occur more frequently and become more severe with increasing age. Symptoms may occur following various stimuli such as light, stress or exercise.
  • Unverricht-Lundborg syndrome: A rare inherited type of progressive myoclonus epilepsy which tends to cause symptoms during childhood. The involuntary muscle movements tend to occur more frequently and become more severe with increasing age. Symptoms may occur following various stimuli such as light, stress or exercise.
  • Varix: A prominent blood vessel on the vocal fold due to the such things as extreme voice abuse.
  • Ventricular dysphonia: A voice disorder where the ventricular bands close abnormally above the vocal folds which affects speech quality. The cause is often unknown but vocal fold disease may be involved in some cases.
  • Vildervanck syndrome 4: A syndrome characterized by deafness at birth and a hand and foot malformation.
  • Vocal cord carcinoma: A cancer that occurs in the vocal cords. Predisposing factors for this type of cancer include smoking, chemicals, environmental irritants and metabolic problems.
  • Voice Disorders: Any condition that affects the quality of the voice. Causes include infection, trauma, reflux and allergies. The problem may be chronic or acute.
  • W syndrome: A rare genetic disorder involving distinctive facial features, mental retardation, speech problems and limb deformities.
  • Wernicke dementia: Memory problems and disorientation that can occur in the elderly.
  • Whispering dysphonia, hereditary: A rare inherited disorder where an individual is able to talk normally when they’re asleep, drunk or emotional but for the most part are only able to whisper. The condition may be progressive and leaves the person unable to make a single sound. Sufferers also exhibited involuntary movements (torsion dystonia).
  • Wieacker-Wolff Syndrome:
  • Wiedemann-Tolksdorf syndrome: A syndrome involving mental retardation, speech problems, rapid growth, unusual face and finger and toe anomalies.
  • Wittwer sydnrome: A syndrome that is characterised by the occurrence of growth retardation, blindness, hearing loss, dysmorphic features, epilepsy, mental retardation and the absence of speech
  • Wolfram's disease: A condition that is inherited and consists of multiple symptoms

 

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