Mesomelic Dwarfism, Reinhardt-Pfeiffer Type

A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.

Epidemiology

Prevalence is unknown but only a few families have been described in the literature so far.

Clinical description

Curvatures of the forearm, radial head luxation, and tibial anomalies have also been described.

Etiology

The syndrome is transmitted in an autosomal dominant manner and cases of this dysplasia have been described in families with Langer mesomelic dwarfism and Léri-Weill dyschondrosteosis (see these terms) leading to the suggestion that this dysplasia, type Reinhardt-Pfeiffer may also be associated with haploinsufficiency of the short stature homeobox (SHOX; Xp22.33 and Yp11.32) gene or anomalies of the downstream pseudoautosomal region 1 (PAR1) where SHOX enhancer elements are located.