Léri-Weill dyschondrosteosis

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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 deformity). It is often caused by mutations in the SHOX gene found in the pseudoautosomal region PAR1 of the X and Y chromosomes.

LWD was first described in 1929 by André Léri and Jean A. Weill.

[edit] References

  • Mendelian Inheritance in Man (OMIM) 127300
  • 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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