Specialty medical genetics ICD-9-CM 756.59 DiseasesDB 31950 | ICD-10 Q77.8 OMIM 127300 | |
GeneReviews SHOX-Related Haploinsufficiency Disorders | ||
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).
Contents
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.
SHOX gene deletions have been identified as the major cause of Leri–Weill syndrome.
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.
References
Léri–Weill dyschondrosteosis Wikipedia(Text) CC BY-SA