Léri–Weill dyschondrosteosis

Léri–Weill dyschondrosteosis
Other names	LWD
Léri–Weill dyschondrosteosis is inherited in an autosomal dominant manner
Specialty	Medical genetics

Léri–Weill dyschondrosteosis or LWD is a rare pseudo

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

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History

LWD was first described in 1929 by André Léri and Jean A. Weill.^[4][5]

References