Deafness- congenital onychodystrophy- recessive form
Overview
A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R).
Symptoms
* Nail malformation * Bone malformation * Mental retardation * Sensorineural deafness * Malformation of inner ears * Epilepsy * Grand mal seizures * Underdeveloped nails * Misshapen nails * Absent nails * Extra small bone in thumb * Extra small bone in big toe * Underdeveloped finger bones * Underdeveloped toe bones
Causes
1. Conductivehearing loss 1. Externalauditory canal disorders 1. Atresia of external auditory canal 2. Impacted cerumen 3. Otitis externa 4. Exostosis 5. Masses 2. Middle ear disorders 1. Acuteand chronic otitis media 2. Otitis media with effusion 3. Tympanic membrane perforation 4. Hemotympanum 5. Tympanosclerosis 6. Ossicular chain defect, disruption,or fixation 7. Cholesteatoma and other middle earmasses 2. Sensorineural hearing loss 1. Sensorineuralhearing loss without associated abnormalities 2. Sensorineural hearing loss with associatedabnormalities 3. Chromosomal disorders 4. Inner ear malformations 1. Labyrinthineaplasia 2. Common cavity malformation 3. Cochlear malformations 4. Large vestibular aqueduct 5. Prematurity 6. Hypoxic-ischemic encephalopathy 7. Bilirubin encephalopathy (kernicterus) 8. Infection 9. Trauma 10. Drugs 11. Perilymph fistula 12. Neoplasm 13. Ménière disease 14. Unknown 3. Mixed hearing loss
Diagnosis
This medical information about signs and symptoms for Deafness, congenital onychodystrophy, recessive form has been gathered from various sources, may not be fully accurate, and may not be the full list of Deafness, congenital onychodystrophy, recessive form signs or Deafness, congenital onychodystrophy, recessive form symptoms. Furthermore, signs and symptoms of Deafness, congenital onychodystrophy, recessive form may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Deafness, congenital onychodystrophy, recessive form symptoms.
Resources
* Epilepsy: Brain condition causing seizures or spasms. * Grand mal seizures: Whole body seizures (convulsions/fits) * Mental retardation: A mental condition that is characterised by a significantly low IQ * Nail symptoms: Symptoms affecting the fingernails or toenails * Onychodystrophy - deafness: A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R). * Sensorineural deafness: A condition which is characterized by deafness due to a sensineural deficit