Fourman-Fourman Syndrome
| Classification according to ICD-10 | |
|---|---|
| H91.9 | Hearing loss, unspecified |
| ICD-10 online (WHO version 2019) | |
The Fourman-Fourman syndrome , also known as Branchiootisches syndrome 1 denotes (BOS1), is a rare genetic disease that was first described in the 1955th
clinic
An accumulation of malformations in the area of descendants of the branchial arch anus is observed in the affected families . The auricle may be stunted or absent. In many cases, however, only funnel-shaped indentations in the area of the auricle, so-called ear fistulas , are visible from the outside . However, these are indistinguishable from the frequent sporadic ear fistulas, which are usually not considered to be pathological. Affected children are usually born hearing and become deaf in the course of the disease up to the age of 20.
genetics
The mode of inheritance of the genetically apparently heterogeneous disease is not fully understood, but an autosomal dominant inheritance with incomplete penetrance is suspected in most families . Mutations in the EYA1 gene on the long arm of chromosome 8 (8q13.3) have been detected in individual families . This gene is also involved in branchio-oto-renal syndrome .
treatment
With early hearing aids or cochlear implants and speech therapy support, affected children can usually attend a normal school.
literature
Individual evidence
- ↑ J. Fourmann, P. Fourmann: Hereditary deafness in family with ear-pits (fistula auris congenita). In: Br Med J. 1955; 2 (4952), pp. 1354-1356. PMID 13269867
- ↑ C. Vincent et al: BOR and BO syndromes are allelic defects of EYA1. In: Eur J Hum Genet. 1997; 5 (4), pp. 242-246. PMID 9359046
Web links
- Branchiootic syndrome 1. In: Online Mendelian Inheritance in Man . (English)
