Upper limb mesomelic dysplasia, type Fryns
ORPHA:2497· ICD-10 Q78.8
Definition
A rare primary bone dysplasia characterized by isolated upper limb mesomelic dysplasia. Patients present with ulnar hypoplasia with severe radial bowing, but normal stature.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal