Cartilage-hair hypoplasia
ORPHA:175· ICD-10 Q78.8
Definition
A rare chondrodysplasia characterized by disproportional small stature due to metaphyseal lesions associated with fine slow growing hair.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal