Acrocapitofemoral dysplasia
ORPHA:63446· ICD-10 Q78.8
Definition
A rare skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal