Fountain Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The fountain syndrome is a very rare congenital disease with a combination of deafness, skeletal dysplasia and cleft lip granuloma.
The disease is named after the first person to describe it in 1974, the British dermatologist Robert B. Fountain .
distribution
The frequency is given as less than 1 in 1,000,000, the inheritance is presumably autosomal - recessive . Only a few families have been described so far.
root cause
A genetic cause is not yet known.
Clinical manifestations
There is a hearing loss . There are also short and clumsy hands, a coarsened face with swelling of the cheeks and lips. There is also mental retardation and epileptic seizures are possible.
Investigation methods
Anomalies of the cochlea can be detected by imaging using computed tomography or magnetic resonance imaging . The x-ray shows a clear thickening of the roof of the skull , widening of the terminal phalanges of the fingers, and sometimes deformation of the vertebral bodies .
Individual evidence
- ↑ RB Fountain: Familial bone abnormalities, deaf mutism, mental retardation and skin granuloma. In: Proceedings of the Royal Society of Medicine. Volume 67, Number 9, September 1974, pp. 878-879, ISSN 0035-9157 . PMID 4431800 . PMC 1645940 (free full text).
- ↑ a b c Fountain syndrome. In: Orphanet (Rare Disease Database).
- ↑ Fryns JP, Dereymaeker A, Hoefnagels M, van den Berghe H .: Mental retardation, deafness, skeletal abnormalities, and coarse face with full lips: confirmation of the Fountain syndrome. In: Am J Med Genet . tape 26 , 1987, pp. 551-555 .
Web links
Fountain Syndrome. In: Online Mendelian Inheritance in Man . (English)
