Reardon Hall Slaney Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q78.8 | Other specified osteochondrodysplasias |
| ICD-10 online (WHO version 2019) | |
The Reardon Hall Slaney syndrome is a very rare congenital disease and is among the mesomelic dysplasia . The main characteristics are mesomelic short stature with cleft palate and camptodactyly .
The name refers to the British doctor William Reardon and colleagues.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .
Clinical manifestations
Clinical criteria are:
- mesomelic shortening and curvature of the extremities
- Camptodactyly
- Hypoplasia of the lower jaw , retrogeny
- Cleft palate
Individual evidence
- ↑ a b c short stature, mesomelic cleft palate - camptodactyly. In: Orphanet (Rare Disease Database).
- ↑ MESOMELIC LIMB SHORTENING AND BOWING. In: Online Mendelian Inheritance in Man . (English)
- ^ W. Reardon, CM Hall, S. Slaney, SM Huson, J. Connell, N. al-Hilaly, J. Fixsen, M. Baraitser, RM Winter: Mesomelic limb shortness: a previously unreported autosomal recessive type. In: American journal of medical genetics. Vol. 47, No. 5, October 1993, pp. 788-792, doi: 10.1002 / ajmg.1320470537 , PMID 8267013 .
