Léri-Weill dyschondrosteosis
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ICDO = | OMIM = 127300 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = |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.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.
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