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.
MONDO:0023599
mesomelic dysplasia
is_a
Fryns Hofkens Fabry syndrome
related
Fryns-Hofkens-Fabry syndrome
exact
upper limb mesomelic dysplasia
exact