Léri–Weill dyschondrosteosis
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| Léri–Weill dyschondrosteosis | |
|---|---|
| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| ICD-10 | Q77.8 |
| ICD-9-CM | 756.59 |
| OMIM | 127300 |
| DiseasesDB | 31950 |
| Patient UK | Léri–Weill dyschondrosteosis |
| GeneReviews | |
Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity).[1]
Causes
It is caused by mutations in the SHOX gene found in the pseudoautosomal region PAR1 of the X and Y chromosomes, at band Xp22.33 or Yp11.32.[2]
SHOX gene deletions have been identified as the major cause of Leri–Weill syndrome.[3]
Leri–Weill dyschondrosteosis is characterized by mesomelic short stature, with bowing of the radius more so than the ulna in the forearms and bowing of the tibia while sparing the fibula.
History
LWD was first described in 1929 by André Léri and Jean A. Weill.[4][5]
