Léri–Weill dyschondrosteosis
Medical condition
From Wikipedia, the free encyclopedia
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]
| Léri–Weill dyschondrosteosis | |
|---|---|
| Other names | LWD |
| |
| Léri–Weill dyschondrosteosis is inherited in an autosomal dominant manner | |
| Specialty | Medical genetics  |
Causes
It is caused by mutations in the short-stature homeobox 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.[citation needed]
Diagnosis
Diagnosis is made following genetic blood testing.[citation needed]
Treatment
There is currently no known treatment for Leri-Weill dyschondrosteosis.
History
LWD was first described in 1929 by André Léri and Jean A. Weill.[4][5]