ulnar/fibula ray defect-brachydactyly syndrome
MONDO:0012063Mondo
Findings
No curated finding names ulnar/fibula ray defect-brachydactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0012063), read 2026-09-29. CC BY 4.0.
Features
12 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.
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the fibulaHPOHP:0006492
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the ulnaHPOHP:0006495
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- Frequent (30% to 79% of cases)
- Malar flatteningHPOHP:0000272
- Frequent (30% to 79% of cases)
- Short 5th fingerHPOHP:0009237
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Atrial septal defectHPOHP:0001631
- Occasional (5% to 29% of cases)
- HemangiomaHPOHP:0001028
- Occasional (5% to 29% of cases)
- Postaxial oligodactylyHPOHP:0006210
- Occasional (5% to 29% of cases)
- Short footHPOHP:0001773
- Occasional (5% to 29% of cases)
- Talipes equinovarusHPOHP:0001762
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: ulnar/fibula ray defect-brachydactyly syndrome
- Also called
- Morava-Mehes syndrome