Femoral-facial syndrome
ORPHA:1988· ICD-10 Q87.8
Definition
A rare syndrome with limb reduction defects characterized by femoral agenesis/hypoplasia (bilateral or unilateral) and recognizable facies.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal