femoral-facial syndrome
MONDO:0007604Mondo
Findings
No curated finding names femoral-facial syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.
Definition from the Mondo Disease Ontology (MONDO:0007604), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
51 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.
- Cleft palateHPOHP:0000175
- 58 of 92 reported patients
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- 60 of 92 reported patients
- Very frequent (80% to 99% of cases)
- Short femurHPOHP:0003097
- 72 of 92 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal fibula morphologyHPOHP:0002991
- Frequent (30% to 79% of cases)
- Abnormal pelvic girdle bone morphologyHPOHP:0002644
- Frequent (30% to 79% of cases)
- Abnormal sacrum morphologyHPOHP:0005107
- Frequent (30% to 79% of cases)
Show the remaining 39
- Orofacial cleftHPOHP:0000202
- Frequent (30% to 79% of cases)
- Preaxial foot polydactylyHPOHP:0001841
- Frequent (30% to 79% of cases)
- Short noseHPOHP:0003196
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Talipes equinovarusHPOHP:0001762
- 40 of 92 reported patients
- Frequent (30% to 79% of cases)
- Thin upper lip vermilionHPOHP:0000219
- Frequent (30% to 79% of cases)
Where it sits
Other names
4 names
Resolves to: femoral-facial syndrome
- Also called
- Femoral Facial Syndromefemoral hypoplasia-unusual facies syndromeFFSFHUFS