Fryns Hofkens Fabry syndrome

Alternate names

Ulnar hypoplasia; Upper limb mesomelic dysplasia; Ulna hypoplasia

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.

NIH genetic and rare disease info

• NIH info on Fryns Hofkens Fabry syndrome

Fryns Hofkens Fabry syndrome is a rare disease.

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