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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Léri-Weill dyschondrosteosis

Introduction


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

Causes

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

History

History

LWD was first described in 1929 by André Léri and Jean A. Weill.[1][2]

References

References

  1. ↑ Template:WhoNamedIt
  2. ↑ 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.