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Symptom Checker » Abnormal ear sensation » Cerebellopontine angle tumors causing sudden deafness
 

Abnormal ear sensation and Cerebellopontine angle tumors causing sudden deafness and Hearing loss
Symptom Checker

Results: Causes of Abnormal ear sensation AND Cerebellopontine angle tumors causing sudden deafness AND Hearing loss

Note: Do not use for diagnosis; see limitations of results.

Results: 238 causes of Abnormal ear sensation OR Cerebellopontine angle tumors causing sudden deafness OR Hearing loss

    1. 3-Hydroxyacyl-CoA Dehydrogenase II Deficiency
     A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Sympt...more »
    2. ABCD syndrome
     A rare inherited condition characterized by albinism, deafness, a black lock of hair and intestinal abnormalities....more »
    3. ARTS syndrome
     A rare lethal syndrome characterized by deafness, optic atrophy and ataxia....more »
    4. Abidi X-linked mental retardation syndrome
     A rare genetic disorder characterized by a number of physical abnormalities...more »
    5. Acoustic Neurinoma
     A benign tumor of the 8th cranial nerve which lies in the tube connecting the inner ear to the brain....more »
    6. Acoustic neuroma
     A benign tumor of the 8th cranial nerve which lies in the tube connecting the inner ear to the brain....more »
    7. Acrocephalosyndactyly Syndrome type 5
     A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity....more »
    8. Acrocephalosyndactyly type 5 (ACPS 5)
     A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity....more »
    9. Acroosteolysis dominant type
     A rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes....more »
    10. Acrosphenosyndactylia
     A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused t...more »
    11. 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....more »
    12. Aging
     The medical conditions from getting older....more »
    13. Al Gazali Sabrinathan Nair syndrome
     A very rare syndrome characterized by bone and eye problems, seizures and mental retardation....more »
    14. 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...more »
    15. Alopecia mental retardation syndrome
     A rare syndrome characterized primarily by a lack of hair and mental retardation....more »
    16. 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 t...more »
    17. Arthrogryposis-like hand anomaly -- sensorineural deafness
     A rare disorder characterized by hand contractures and deafness....more »
    18. Autosomal Dominant Charcot-Marie-Tooth with hearing loss
     A dominantly inherited form of Charcot-Marie-Tooth disease which also involves hearing loss. Charcot-Marie-Tooth disease is a progressive nerve disease that affects the peripheral nerves and hence the muscles primarily in the limbs....more »
    19. 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....more »
    20. 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)....more »
    21. Bagatelle-Cassidy syndrome
     An extremely rare syndrome characterized by a large head, widely spaced eyes, hearing loss, short limbs and developmental delay....more »
    22. Barotitis Media
     Middle ear injury due to eustachian tube blockage...more »
    23. Barotrauma
     Damage to the lungs, ear or sinuses caused by rapid or extreme changes in air pressure....more »
    24. 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 conscious...more »
    25. Benign Paroxysmal Positional Vertigo
     A condition where certain head movements cause extreme dizziness....more »
    26. Biotinidase deficiency
     A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes....more »
    27. Biotinidase deficiency, late onset
     A metabolic disorder where the body lacks the enzyme biotinidase needed to process the vitamin called biotin (vitamin H) into carboxylase enzymes. The severity of symptoms may vary depending on the degree of deficiency. Severe cases can result in metaboli...more »
    28. Boudhina-Yedes-Khiari syndrome
     A very rare syndrome characterized primarily by short stature, small head, mental deficiency, seizures, hearing loss and skin lesions....more »
    29. Brachydactyly -- dwarfism -- mental retardation
     A very rare syndrome characterized by short fingers, very short stature and mental retardation....more »
    30. Branchio-Oto-Renal Syndrome
     Autosomal dominant genetic disorder involving kidneys, ears and neck....more »
    31. 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....more »
    32. 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 do...more »
    33. 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 d...more »
    34. CMV antenatal infection
     A rare condition where a fetus becomes infected with the cytomegalovirus through the mother....more »
    35. 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....more »
    36. Cerebrocostomandibular Syndrome
     A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other abnormalities....more »
    37. Charcot-Marie-Tooth Disorder
     Degeneration of limb muscles....more »
    38. 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 ...more »
    39. Cholesteatoma
     Uncommon middle ear condition...more »
    40. 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....more »
    41. 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....more »
    42. Chromosome 11, Partial Monosomy 11q
     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....more »
    43. 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....more »
    44. 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....more »
    45. 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....more »
    46. 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....more »
    47. Colobomatous microphthalmia -- heart disease -- hearing loss
     A very rare syndrome characterized by small eyes, heart disease and hearing loss....more »
    48. Congenital Toxoplasmosis
     Fetal infection with toxoplasmosis....more »
    49. Congenital cytomegalovirus
     Fetal infection with cytomegalovirus....more »
    50. 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....more »
    51. 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 t...more »
    52. Cyclosporin -- Teratogenic Agent
     There is evidence to indicate that exposure to Cyclosporin (an immunosuppressant drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affe...more »
    53. Cyclosporine -- Teratogenic Agent
     There is evidence to indicate that exposure to Cyclosporine (an immunosuppressant drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be aff...more »
    54. Cyst
     Lump produced by over-secreting gland...more »
    55. Cytomegalovirus -- Teratogenic Agent
     There is strong evidence to indicate that the development of Cytomegalovirus during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by th...more »
    56. DIDMOAD Syndrome, Mitochondrial form
     A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects....more »
    57. 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 ...more »
    58. Davenport-Donlan syndrome
     A very rare syndrome characterized mainly by deafness, white hair, contractures and papillomas....more »
    59. Deafness hypogonadism syndrome
     A rare condition characterized by the combination of hypogonadism and deafness....more »
    60. 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 ...more »
    61. 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....more »
    62. 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....more »
    63. 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 ...more »
    64. 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....more »
    65. 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 ...more »
    66. Deafness, autosomal recessive 72
     Recessively inherited hearing loss involving a defect on chromosome 19p13.3....more »
    67. 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....more »
    68. Del (2) (p25.1-p24.2)
     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....more »
    69. Del(1) (23-q25)
     A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing....more »
    70. Dentinogenesis imperfecta -- short stature -- hearing loss -- mental retardation
     A rare syndrome characterized by teeth anomalies (dentinogenesis imperfecta), short stature, hearing loss and mental retardation....more »
    71. 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....more »
    72. 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....more »
    73. 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 ...more »
    74. Down Syndrome
     A chromosome syndrome causing physical effects and mental retardation....more »
    75. Duane-radial ray syndrome
     A very rare inherited disorder characterized by impaired control of eye movement and bone abnormalities in the hands and feet....more »
    76. Dysostosis acral with facial and genital abnormalities
     A very rare inherited disorder characterized by short stature and head, face, skeletal and genital abnormalities. The facial appearance is that of a two-month old fetus. The severity and range of symptoms is variable. This dominantly inherited form of Rob...more »
    77. Ear foreign body
     Having a "foreign body" stuck inside the ear...more »
    78. Ear wax
     Buildup of wax (cerumen) inside the ear canal...more »
    79. 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 t...more »
    80. 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....more »
    81. 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....more »
    82. Erythromycin -- Teratogenic Agent
     There is evidence to indicate that exposure to Erythromycin (an antibiotic) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the...more »
    83. Fabry's Disease
     Genetic fat storage disorder...more »
    84. 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....more »
    85. 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 ot...more »
    86. Fetal methylmercury syndrome
     Fetal exposure to methyl mercury which can pass from the mother to the fetus through the placenta....more »
    87. Flucytosine -- Teratogenic Agent
     There is evidence to indicate that exposure to Flucytosine (an antifungal drug) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by...more »
    88. 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....more »
    89. GM2-gangliosidosis, AB variant
     A very rare inherited disorder where the brain and spinal cord nerve cells (central nervous system) are progressively destroyed....more »
    90. Glue ear
     Fluid accumulation in the middle ear...more »
    91. 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 infanti...more »
    92. HARD syndrome
     A rare genetic disorder characterized by a smooth brain surface and eye, genitourinary and other abnormalities....more »
    93. Hay fever
     An allergy which causes sneezing, runny nose or blocked nose for part of the year....more »
    94. Head injury
     An injury to the head...more »
    95. Hearing Impairment
     Reduced ability to hear sounds....more »
    96. Hereditary hearing loss
     Hearing loss that is inherited or passed on from parents to children as a result of a genetic defect....more »
    97. Hunter-MacDonald syndrome
     A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas....more »
    98. Hunter-Mcdonald syndrome
     A rare syndrome characterized mainly be short stature, characteristic facial appearance and a predisposition for developing brain tumors....more »
    99. Hypobetalipoproteinaemia -- ataxia -- hearing loss
     A rare disorder characterized by the association of low blood betalipoprotein level, ataxia and hearing loss....more »
    100. 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 ...more »
    101. 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....more »
    102. Jequier-Deonna Syndrome
     A very rare condition described in two sisters. It is characterized by vision and hearing problems and incoordination....more »
    103. Johanson-Blizzard Syndrome
     A rare genetic disorder involving a range of abnormalities including a characteristic beak-like small nose, hypothyroidism and deafness....more »
    104. Juvenile Paget's Disease
    105. Kearns-Sayre Syndrome
     A rare neuromuscular disorder characterized by pigmented deposits on the retina, heart disease and progressive paralysis of some eye muscles....more »
    106. 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....more »
    107. Kniest dysplasia
     A rare genetic bone growth disorder characterized by dwarfism, enlarged joints and facial deformities....more »
    108. Kurczynski-Casperson syndrome
     A very rare syndrome characterized mainly by premature fusion of skull bones, abnormal ears and webbing of the last two toes....more »
    109. LADD Syndrome
     A very rare genetic disorder characterized by ear, teeth and tear duct abnormalities....more »
    110. LEOPARD Syndrome
     A rare genetic disorder characterized by multiple lentigines, pulmonic stenosis, widely spaced eyes and deafness....more »
    111. Labrynthitis
     Inner ear condition affecting various ear structures...more »
    112. Lacrimoauriculodentodigital syndrome
     A rare genetic disorder characterized by ear, teeth and tear duct abnormalities....more »
    113. Lead poisoning
     A type of heavy metal poisoning caused by excessive exposure to lead....more »
    114. 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 problema...more »
    115. MPS-IV (Morquio Disease)
     A condition which is characterized by biochemically distinct mucopolysaccharidosis...more »
    116. 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 ...more »
    117. 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....more »
    118. Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
     A rare, recessively inherited disorder characterized mainly by eye, face, mouth, ear and skull abnormalities....more »
    119. May-White syndrome
     A rare inherited disorder characterized by involuntary muscle twitching, balance and coordination problems (cerebellar ataxia) and hearing loss....more »
    120. Mayer-Rokitansky-Kuster-Hauser, syndrome, type 2 (MRKH type 2)
     A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature....more »
    121. Melnick-Fraser syndrome
     A rare genetic disorder characterized by hearing loss and kidney malformations. Type 1 involves a defect on the EYA1 gene on chromosome 8q13.3....more »
    122. Meningococcal disease
     Dangerous bacterial infection causing meningitis or bacteremia....more »
    123. Mental mixed retardation -- deafness -- clubbed digits
     A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers....more »
    124. Mental mixed retardation deafnes clubbed digits
     A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers....more »
    125. Mercury poisoning
     A type of heavy metal poisoning caused by excessive exposure to mercury....more »
    126. Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
     A rare syndrome characterized by the association of a small head, retarded growth, cataracts, hearing loss and an unusual facial appearance. It was reported in a brother and sister....more »
    127. Middle ear infection
     Infection of middle ear also called otitis media....more »
    128. Mitochondrial diseases, clinically indefinite
     An inherited biochemical disorder which can affect many body systems such as the skeleton, heart, brain and nervous system....more »
    129. Mitochondrial neurogastrointestinal encephalopathy syndrome
     A rare genetic disorder which affects a number of body systems and manifests results in symptoms such as droopy eyelids, progressive eye muscle weakness, gastrointestinal dysmotility, brain disease, thin body, peripheral neuropathy and muscle disease....more »
    130. Mondini Dysplasia
     A rare disorder where a part of the ear (cochlea) fails to develop completely causing hearing loss. The hearing loss may be gradual or sudden and the severity may be vary from normal hearing to complete hearing loss. Hearing loss may start in childhood or...more »
    131. Morquio syndrome type A
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate) needed to break it down....more »
    132. Morquio syndrome, type B
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (? galactosidase) needed to break it down....more »
    133. Mucopolysaccharidosis III
     Disorder of mucopolysaccharide metabolism in children....more »
    134. Mucopolysaccharidosis IV
     Disorder of mucopolysaccharide metabolism in infants....more »
    135. Mucopolysaccharidosis type 2 Hunter syndrome- mild form
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (iduronidate 2-sulfatase) needed to break it down....more »
    136. Mucopolysaccharidosis type 2 Hunter syndrome- severe form
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (iduronidate 2-sulfatase) needed to break it down....more »
    137. Mullerian Aplasia -- Renal Aplasia -- Cervicothoracic Somite Dysplasia
     A rare developmental disorder occurring only in females and characterized by skeletal and genitourinary abnormalities and small stature....more »
    138. Multiple carboxylase deficiency, propionic acidemia
     A disorder of fat metabolism where the body is unable to convert fat to energy due to the lack of a number of enzymes (carboxylases). Sufferers need to eat regularly to prevent symptoms. Symptoms are determined by the size and exact location of the tumor....more »
    139. Myoclonus with epilepsy with ragged red fibers
     A rare disorder of mitochondrial metabolism characterized by myoclonic epilepsy and ragged-red muscle fibers. Mitochondria are the part of the body cells that produce energy....more »
    140. Ménière's disease
     Ear fluid disorder causing balance problems....more »
    141. Nasopharyngeal carcinoma
     A malignant cancer that occurs in the nasopharynx area which is the upper part of the throat. Often there are no symptoms until the cancer has metastasized to other parts of the body such as the neck....more »
    142. Nasopharyngitis
     Nasopharyngitis is a contagious, viral infectious disease of the upper respiratory system, primarily.It is the most common infectious disease in humans...more »
    143. Neonatal Jaundice
     Common skin yellowing jaundice in newborn babies....more »
    144. Neurofibromatosis-2
     Genetic disorder often leading to tumors on nerves....more »
    145. Neuropathy -- ataxia -- retinitis pigmentosa
     A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable....more »
    146. Neuropathy ataxia and retinis pigmentosa
     A rare inherited disorder where defects in the energy producing part of cells affects the nervous system and causes symptoms such as muscle and vision problems. Severity and rang of symptoms are variable....more »
    147. Nievergelt syndrome
     A rare inherited bone disease which causes abnormalities in the lower leg and lower arm bones as well as dwarfism and digit anomalies....more »
    148. Noise-Induced Hearing Loss
     Hearing loss from loud noise exposure....more »
    149. Nonsyndromic deafness
     Hearing loss that occurs without any other symptoms - ie is not associated with any other condition....more »
    150. Osteogenesis imperfecta type IV
     A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae. The osteoporosis tends to be moderate and there is generally no joint hyperextensibility....more »
    151. Osteogenesis imperfecta, type 3
     A rare genetic connective tissue disorder characterized by progressive limb deformity and normal sclerae....more »
    152. Osteogenesis imperfecta, type 4
     A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae - a form of OI involving moderate osteoporosis and no joint hyperextensibility....more »
    153. Osteopathia striata, cranial sclerosis
     A rare disorder characterized by striations along most long bones as well as increased bone density in the skull which is associated with various craniofacial defects....more »
    154. Osteopetrosis autosomal dominant type 1
     A very rare dominantly inherited syndrome characterized mainly by increased bone density. The increased bone density results because old bone is not resorbed and replaced with new bone. Only 33 cases in 3 families have been reported. In type I, the increa...more »
    155. Otitis externa
     Infection of the outer ear canal...more »
    156. Otosclerosis
     Genetic ear bone disorder...more »
    157. Otospondylomegaepiphyseal dysplasia
     A rare genetic disorder where abnormal bone growth causes hearing loss, skeletal abnormalities and characteristic facial features....more »
    158. Paget's disease of bone
     A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile....more »
    159. Paget's disease, type 1
     A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile. Type 1 is caused by a mutation on chromosome 6p21.3....more »
    160. Paget's disease, type 4
     A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile. Type 1 is caused by a mutation on chromosome 5q31....more »
    161. Paraganglioma
     A rare, usually benign tumor most often found in the abdomen, chest, head and neck areas. The tumor develops from glomus cells which are located along blood vessels involved in automatic body activities such as regulation of blood pressure and blood flow....more »
    162. Pfeiffer Syndrome Type I
     A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity. Type I ...more »
    163. Pfeiffer syndrome
     A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity....more »
    164. Plant poisoning -- Lobeline
     Lobeline is a chemical found naturally in plants called lobelias. Ingesting plants containing the chemical produces symptoms similar to the effects of nicotine....more »
    165. Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract
     A very rare, recessively inherited condition characterized by the association of vision, hearing and neurological problems. The condition generally starts during the second decade of life and progresses slowly....more »
    166. Presbycusis
     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 impai...more »
    167. 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....more »
    168. Ptosis -- coloboma -- trigonocephaly
     A very rare syndrome characterized mainly by droopy eyelids, coloboma and triogoncephaly as well as other variable features....more »
    169. Quinidine -- Teratogenic Agent
     There is evidence to indicate that exposure to Quinidine 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 ...more »
    170. Ramsay Hunt Syndrome type I
     A rare condition involving progressive neurological degeneration. It tends to start in adulthood and progresses over a number of years before ultimately ending in death....more »
    171. Renal tubulopathy -- diabetes mellitus -- cerebellar ataxia
     A very rare condition characterized by rapidly progressive diabetes, kidney disease and cerebellar ataxia. Symptoms develop during the first five years....more »
    172. Richards-Rundle syndrome
     A very rare syndrome characterized mainly by mental retardation, ataxia, deafness and ketoaciduria....more »
    173. Robinson syndrome
     A very rare condition observed in a West Coast Indian family. The condition is characterized by scoliosis, hearing impairment, ataxia and sensory loss. The severity, rate of progression and age of onset of the neuropathic symptoms was highly variable. Sen...more »
    174. Rocky Mountain spotted fever
     A bacterial disease caused by Rickettsia rickettsii and transmitted by ticks. The condition causes fever and a characteristic rash and may be fatal in severe or untreated cases....more »
    175. Rosenberg-Chutorian Syndrome
     A very rare disorder involving eye, ear and nerve disorders....more »
    176. Rowley syndrome
     An inherited syndrome involving the association of hearing loss with branchial fistula....more »
    177. SCHAD deficiency
     A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Sympt...more »
    178. Saethre-Chotzen syndrome, chromosome 7 p15.3p21.3
     A rare genetic disorder characterized by finger anomalies and premature joining of certain skull bones during development which has an impact on the shape of the head and face. There appears to be considerably variability of symptoms and clinical features...more »
    179. Sanfilippo syndrome type A
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans). This occurs due to there being not enough of the enzyme called heparin sulfatase which is needed to break down the mucopolysacharides. The...more »
    180. Sanfilippo syndrome type B
     A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) due to deficiency of an enzyme called N-acetyl-alpha-D-glucosaminidase. Mucopolysaccharide levels build up and are then deposited in variou...more »
    181. Schaefer-Stein-Oshman syndrome
     A rare disorder where excessive growth and abnormal hardening affects the head and facial bones....more »
    182. Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
     A very rare syndrome characterized by progressive ataxia, eye muscle problems and a speech disorder (dysarthria)....more »
    183. Skull fracture
     A fracture of the bones of the skull...more »
    184. 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....more »
    185. Spinocerebellar ataxia, autosomal recessive 3
     A rare neurological disorder caused by a genetic defect (chromosome 6p21, recessive) and resulting in ataxia and loss of vision and hearing....more »
    186. Steinfeld syndrome
     A very rare syndrome characterized by kidney abnormalities, single brain lobe and a heart defect....more »
    187. Streptomycin -- Teratogenic Agent
     There is evidence to indicate that exposure to Streptomycin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposu...more »
    188. Sulfatidosis juvenile, Austin type
     A very rare metabolic disorder where all the sulfatase enzymes are impaired resulting in a variety of physical and developmental abnormalities....more »
    189. Superficial siderosis of the central nervous system
     A rare disorder where hemosiderin (free iron) is deposited in parts of the central nervous system (brain and spinal cord tissue). It is often caused by repeated periods of bleeding in the brain (subarachnoid space)....more »
    190. Synovitis granulomatous with uveitis and cranial neuropathies
     A rare chronic inflammatory condition characterized by arthritis, dermatitis and uveitis. The condition may have a similar presentation to a condition called early-onset sarcoidosis and genetic testing may be needed to distinguish the conditions....more »
    191. Syphilis -- Teratogenic Agent
     There is strong evidence to indicate that the development of Syphilis during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage...more »
    192. TORCH Syndrome
     Infection of a fetus by any of a group of infectious agents which have been transmitted from the mother through the placenta. The infections include toxoplasmosis, rubella, cytomegalovirus, herpes virus, hepatitis and syphilis. The severity and nature of ...more »
    193. Thies Reis syndrome
     A rare condition characterized by hearing loss caused by fixation of stapes (ear bone which causes conductive deafness if it becomes fixed and immovable). It can occur as a result of various bone diseases or even chronic ear infections....more »
    194. Traumatic Brain Injury
     Brain injury from trauma or accident....more »
    195. Triglyceride storage disease with impaired long-chain fatty acid oxidation
     A rare inherited disorder involving the metabolism of fat which causes skin, muscle and blood abnormalities....more »
    196. Type 10 17b-hydroxysteroid dehydrogenase deficiency
     A rare genetic disorder involving the deficiency of an enzyme (hydroxyacyl-coa dehydrogenase). The severity of the symptoms is highly variable with some cases resulting in death during the first decade while others suffer psychomotor and regression. Sympt...more »
    197. Typhus
     A general name for various arthropod-borne rickettsial infections...more »
    198. Upper Respiratory Infection
     Any type of infection of the upper respiratory tract...more »
    199. Upper limb defect eye and ear abnormalities
     A rare disorder characterized by underdeveloped thumb and ear, deafness and an eye defect....more »
    200. Usher Syndrome Type 1
     A rare inherited disorder characterized by sensorineural deafness at birth or soon after and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe t...more »
    201. Usher Syndrome Type 3
     A rare inherited disorder where children are born with normal hearing and vision which progressively deteriorates at a variable rate....more »
    202. Usher syndrome, type 1B
     A syndrome which is characterised by congenital bilateral sensorineural hearing loss...more »
    203. Usher syndrome, type 1C
     A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deaf...more »
    204. Usher syndrome, type 1D
     A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deaf...more »
    205. Usher syndrome, type 1E
     A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deaf...more »
    206. Usher syndrome, type 1F
     A rare inherited disorder characterized by sensorineural deafness and progressive vision loss which starts during the first decade of life and blindness usually occurs between 20-35 years of age. Symptoms are generally more severe than in type 2 with deaf...more »
    207. Usher syndrome, type 2A
     A syndrome which is characterised by congenital bilateral sensorineural hearing loss...more »
    208. Usher syndrome, type 2B
     A syndrome which is characterised by congenital bilateral sensorineural hearing loss...more »
    209. Usher syndrome, type 2C
     A syndrome which is characterised by congenital bilateral sensorineural hearing loss...more »
    210. Van Buchem disease type 2
     A disease which is characterised by early onset osteoporosis...more »
    211. Verloes Gillerot Fryns syndrome
     A syndrome characterised by multiple congenital abnormalities and mental retardation....more »
    212. Verloes-David Syndrome
     An inherited condition characterised by shortness of stature and multiple skeletal abnormalities....more »
    213. Vestibulocochlear dysfunction progressive familial
     A condition which is characterised by vestibulocochlear dysfunction that occurs in a familial pattern...more »
    214. Vogt-Koyanagi-Harada Syndrome
     A rare condition characterized by poliosis and hair, skin, eye and ear abnormalities as well as retinal detachment and neurological involvement....more »
    215. Vohwinkel syndrome
     A rare condition where tight bands of thickened skin form around the base of fingers and toes and generally leads to self-amputation of the digit. Hearing loss is also associated with the condition....more »
    216. Waardenburg Syndromes
     A syndrome which is characterized by displacement of the medial canthi and lacrimal puncta, a broad nasal bridge, iris conditions....more »
    217. Waardenburg syndrome
     A rare genetic disorder with a large variation in range and severity of symptoms but generally involves hearing loss, characteristic facial abnormalities and changes in skin, hair and eye pigmentation....more »
    218. Waardenburg syndrome type 2
     A hereditary, autosomal dominant disorder....more »
    219. Waardenburg syndrome type IIA
     A rare genetic disorder characterized by partial albinism and have a greater hearing impairment than Waardenburg syndrome type I. Type 2A is distinguished from other forms of type 2 in the origin of the genetic defect - MITF gene on chromosome 3p14.1-p12....more »
    220. Waardenburg syndrome type IIB
     A rare genetic disorder characterized by partial albinism and have a greater hearing impairment than Waardenburg syndrome type I. Type 2B is distinguished from other forms of type 2 in the origin of the genetic defect - chromosome 1p....more »
    221. Waardenburg syndrome, type 3
     A rare syndrome involving deafness, pigmentation and musculoskeletal abnormalities...more »
    222. Waardenburg syndrome, type 4
     A rare inherited eye disorder characterized by loss of central vision as well as symptoms of Hirschsprung disease which is an intestinal disorder that prevents waste material from moving effectively through the digestive system....more »
    223. Waardenburg type 1
     A hereditary, autosomal dominant disorder....more »
    224. Wagner-Stickler Syndrome
     There is confusion about whether Wagner and Stickler disease are actually extremes of the same disorder and thus the term Wagner-Stickler syndrome is sometimes used. Both conditions involve varying degrees of degeneration of eye structures with Stickler s...more »
    225. Watson syndrome
     A rare syndrome characterized by short stature, reduced intelligence, café au lait spots and narrowing of pulmonary valves....more »
    226. Wegener's granulomatosis
     A rare disease involving blood vessel inflammation which can affect the blood flow to various tissues and organs and hence cause damage. The respiratory system and the kidneys are the main systems affected....more »
    227. Wildervanck syndrome 3
     An inherited syndrome characterized by a hole in the skin near the ears, malformed ears and hearing loss....more »
    228. Wilkes Stevenson syndrome
     A syndrome that is characterised by multiple congenital abnormalities...more »
    229. Willems De vries syndrome
     A syndrome that is characterised by prominent short limbs, subluxed knees and a cleft palate...more »
    230. 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...more »
    231. Wolf-Hirschorn syndrome
     A syndrome characterised by the partial deletion of the short arm of chromosome 4...more »
    232. Wolfram Syndrome, Mitochondrial form
     A rare association of diabetes insipidus, diabetes mellitus, optic atrophy and deafness which results in mitochondrial defects....more »
    233. Wolfram's disease
     A condition that is inherited and consists of multiple symptoms...more »
    234. Woodhouse Sakati syndrome
     A condition which consists of numerous symptoms such as diabetes, hypogonadism, deafness and mental retardation...more »
    235. Wright dick syndrome
     A rare, dominantly inherited syndrome characterized mainly by sensory nerve impairment and dementia....more »
    236. Xeroderma pigmentosum, type 2
     A rare genetic disorder where the enzyme that repairs DNA damage done by UV radiation is defective. It is characterized by sensitivity to sunlight, skin pigmentation and atrophy and actinic skin tumors. The different types of xeroderma pigmentosum vary in...more »
    237. Yemenite deaf-blind hypopigmentation syndrome
     A condition which is characterised by the association of several symptoms which affect ones hearing and vision...more »
    238. Zunich neuroectodermal syndrome
     A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects....more »

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