Forney Robinson Pascoe Syndrome
| Classification according to ICD-10 | |
|---|---|
| H90.5 | Hearing loss due to sensorineural hearing disorder, unspecified - Congenital hearing loss or deafness onA |
| ICD-10 online (WHO version 2019) | |
The Forney-Robinson-Pascoe syndrome or Forney syndrome ( lat. Cardio spondylo-carpo-faziales syndrome ) is a congenital disease with a combination of mitral insufficiency, hearing loss, and skeletal malformations.
The disease is named after the American paediatricians William Forney , Saul Robinson and Demler Pascoe , who first described it in 1966 .
distribution
The frequency is given as less than 1: 1,000,000. The inheritance is autosomal dominant .
clinic
Clinical criteria are:
- Congenital mitral regurgitation
- Stapes fixation with congenital hearing loss
- Fusion of cervical vertebrae, foot or hand bones, brachydactyly and clinodactyly
- Short stature
- Iris heterochromia , high palate
literature
- SB Sousa, G. Baujat, V. Abadie, D. Bonnet, D. Sidi, A. Munnich, D. Krakow, V. Cormier-Daire: Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?) - a distinct syndrome? In: American journal of medical genetics. Part A. Volume 152A, Number 3, March 2010, pp. 539-546, ISSN 1552-4833 . doi : 10.1002 / ajmg.a.33277 . PMID 20186786 .
Individual evidence
- ^ WR Forney, SJ Robinson, DJ Pascoe: Congenital heart disease, deafness, and skeletal malformations: a new syndrome? In: The Journal of pediatrics. Volume 68, Number 1, January 1966, pp. 14-26, ISSN 0022-3476 . PMID 5901343 .
- ^ Forney-Robinson-Pascoe syndrome. In: Orphanet (Rare Disease Database).
- ^ 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
Web links
- Forney Robinson Pascoe Syndrome. In: Online Mendelian Inheritance in Man . (English)
