Upper limb mesomelic dysplasia
Upper limb mesomelic dysplasia
Definition
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 — per MONDO