Upper limb mesomelic dysplasia
From BugSigDB
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.
- Aliases
- Fryns Hofkens Fabry syndrome
- Fryns-Hofkens-Fabry syndrome
- Ulna hypoplasia
- ulna hypoplasia
- ulnar hypoplasia
- upper limb mesomelic dysplasia
- upper limb mesomelic dysplasia
