Leri-Weill dyschondrosteosis
Definition
Leri-Weill dyschondrosteosis (LWD) is a rare form of dwarfism. It is characterized by short forearms and lower legs as well as a certain arm-bone abnormality (Madelung deformity).
Description
LWD was first described by A. Leri and J. Weill in 1929. Other names for LWD include Leri-Weill syndrome (LWS), dyschondrosteosis (DCO), and Madelung deformity.
Genetic profile
LWD appears to be caused by several genetic factors. Many forms of LWD are caused by a mutation (change) in a gene called SHOX (for "short stature homeo box" gene). SHOX is located on the X chromosome. In the cases of LWD in which a specific mutation or change cannot be...
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