Mesomelia dysplasia type Langer

The type Langer of mesomelic dysplasia is characterized by severe disproportional dwarfism and mesomeler and rhizomelic shortening of the upper and lower limbs. This autosomal recessive hereditary type has been described in 50 cases.

In addition to the typical for mesomalic dysplasia symmetrical shortening of the middle segments of the limbs, and dwarfism, is characteristic of the type Langer especially the hypoplasia of ulna, fibula and lower jaw.

The cause of the disease are mutations on the SHOX gene at the location Xp22.33 or on the SHOXY gene at the location Yp11.32.