X-linked dominant chondrodysplasia punctata
ORPHA:35173· ICD-10 Q77.3
Definition
A rare genodermatosis disease with great phenotypic variation and characterized most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- X-linked dominant
- Age of onset
- Antenatal, Infancy, Neonatal