proximal femoral focal deficiency
MONDO:0859006Mondo
Findings
No curated finding names proximal femoral focal deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
6 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.
- Aplasia/Hypoplasia involving the femoral head and neckHPOHP:0009108
- Very frequent (80% to 99% of cases)
- Aplasia/hypoplasia of the femurHPOHP:0005613
- Very frequent (80% to 99% of cases)
- Lower limb asymmetryHPOHP:0100559
- Very frequent (80% to 99% of cases)
- Short fetal femur lengthHPOHP:0011428
- Very frequent (80% to 99% of cases)
- Limitation of knee mobilityHPOHP:0010501
- Frequent (30% to 79% of cases)
- Limited hip movementHPOHP:0008800
- Frequent (30% to 79% of cases)
Where it sits
- A kind of