Léri-Weill dyschondrosteosis
| Léri-Weill dyschondrosteosis | |
| ICD-9 | 756.59 |
|---|---|
| OMIM | 127300 |
| DiseasesDB | 31950 |
Léri-Weill dyschondrosteosis or LWD is a rare genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a particular deformity of the forearms (Madelung's deformity).
Causes
It is often caused by mutations in the SHOX gene found in the pseudoautosomal region PAR1 of the X and Y chromosomes.
History
LWD was first described in 1929 by André Léri and Jean A. Weill.[1][2]
References
- ↑ Template:WhoNamedIt
- ↑ A. Léri, J. A. Weill. Une affection congénitale et symétrique du développement osseux. La dyschondrostéose.Bulletins et memoires de la Société medicale des hôpitaux de Paris, 1929, 53: 1491-1494.