Oto-palato-digital syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.0 | Congenital malformation syndromes with predominant involvement of the face |
| ICD-10 online (WHO version 2019) | |
Oto-palato-digital syndrome (OPD) , also known as fronto-oto-palato-digital osteodysplasia, describes a spectrum of very rare congenital skeletal dysplasias with facial abnormalities, hearing loss and X-linked inheritance.
classification
This spectrum includes:
distribution
The frequency is given as less than 1 in 1,000,000, so far more than 30 affected people have been described. The inheritance is X-linked dominant , heterozygous women can only show discrete signs.
root cause
The disease are mutations in FLNA - gene on chromosome X locus q28 based on that for Filamin encoding A.
literature
- JP Fryns, P. Michielsen, L. Vinken, H. Van Den Berghe: The otopalatodigital syndrome. In: Acta paediatrica Belgica. Vol. 31, No. 3, 1978 Jul-Sep, pp. 159-163, PMID 707095 .
- AK Poznanski, RI Macpherson, DJ Dijkman, RJ Gorlin, JC Gall, AM Stern, SM Garn, JM Nagy: Otopalatodigital syndrome: radiologic findings in the hand and foot. In: Birth defects original article series. Vol. 10, No. 5, 1974, pp. 125-139, PMID 4469976
Individual evidence
- ↑ a b Oto-palato-digital syndrome. In: Orphanet (Rare Disease Database).
