Rhizomelic syndrome, Urbach type

Definition

A rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies including short stature, dislocated hips and bifid distal phalanx of the thumb. Craniofacial features include microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia and short neck. Pulmonary stenosis, delayed psychomotor development and mild flexion contractures of the elbows have also been reported. There have been no further descriptions in the literature since 1987.