fibular aplasia-ectrodactyly syndrome
Findings
No curated finding names fibular aplasia-ectrodactyly syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Fibular aplasia-ectrodactyly syndrome is characterized by fibular aplasia and ectrodactyly. Less than 50 familial and sporadic cases have been reported in the literature. Shortening of the femur, a curved tibia, severe foot anomalies and pathologies of the hip, knee and ankle may also be present. The disorder is probably inherited as an autosomal dominant trait, with reduced penetrance, especially in females.
Definition from the Mondo Disease Ontology (MONDO:0007225), read 2026-09-29. CC BY 4.0.
Features
4 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.
- Premature birthHPOHP:0001622
- Very frequent (80% to 99% of cases)
- Abnormal morphology of ulnaHPOHP:0040071
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the fibulaHPOHP:0006492
- Frequent (30% to 79% of cases)
- Split handHPOHP:0001171
- Frequent (30% to 79% of cases)