Eldridge-Berlin-McKusick-Money-Syndrome
| Classification according to ICD-10 | |
|---|---|
| H90.5 | Hearing loss due to sensorineural disorders, unspecified
Congenital hearing loss or deafness onA |
| ICD-10 online (WHO version 2019) | |
The Eldridge-Berlin-McKusick-Money syndrome or Eldridge's syndrome is an autosomal - recessive inherited disease with a combination of sensorineural hearing loss , myopia ( myopia ) and behavioral disorders.
The disease is named after Rosewell Eldridge , Charles Berlin , John Money and Victor Almon McKusick .
clinic
Diagnostic criteria are:
- Congenital bilateral inner ear hearing loss with only slight deterioration, resulting in delayed speech development.
- Pronounced nearsightedness ( myopia ) with decreased vision
- Mild psychomotor and intellectual disabilities and a tendency to autism and / or schizophrenia .
distribution
The inheritance is presumably autosomal - recessive .
root cause
So far, various genetic defects have been described as the cause .
literature
- B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9
Individual evidence
- ^ R. Eldridge, C. Berlin, J. Money, VA McKusick: Cochlear deafness, myopia, and intellectual impairment in an Amish family. 1968 in: Archives of Otolaryngology 88, pp. 49-54
