Ulnar Hypoplasia

Alternative Names

  • Upper Limb Mesomelic Dysplasia
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

191440

Mode of Inheritance

Autosomal dominant

Description

Ulnar Hypoplasia is an extremely rare disorder, so far reported in only a handful of families around the world. It is a form of mesomelic dysplasia that is characterized by severe isolated upper limb mesomelia, and ulnar hypoplasia with radial bowing. 

Epidemiology in the Arab World

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Other Reports

Lebanon

Mégarbané & Ghanem (2005) reported the second case of Ulnar Hypoplasia in medical literature. They described a Lebanese family, in which both father and son were affected with mesomelic shortening of the upper limbs, prominent bowed radii, limitation of elbow movement, dislocation of radial heads, and ulnar deviations. The son was a product of a consanguineous union. Le Caignec et al. (2020) identified a microduplication at 2q31, which  included all HOXD genes in both patients. The father carried the microduplication in a mosaic state.

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