Upper limb mesomelic dysplasia

This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.

Also known as: Fryns-Hofkens-Fabry syndrome, upper limb mesomelic dysplasia, Fryns Hofkens Fabry syndrome, ulna hypoplasia, ulnar hypoplasia

0 clinical trials for this condition and its sub-types.