upper limb mesomelic dysplasia
Findings
No curated finding names upper limb mesomelic dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008620), read 2026-09-29. CC BY 4.0.
Features
3 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hypoplasia of the ulnaHPOHP:0003022
- Very frequent (80% to 99% of cases)
- Radial bowingHPOHP:0002986
- Very frequent (80% to 99% of cases)
- Ulnar deviation of fingerHPOHP:0009465
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: upper limb mesomelic dysplasia
- Also called
- Fryns-Hofkens-Fabry syndrome