Non-rhizomelic chondrodysplasia punctata
ORPHA:176
Definition
Non-rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of diseases in which the common characteristic is bone calcifications near joints from birth. Non-rhizomelic chondrodysplasia punctata is not an entity in itself but covers several diseases with variable clinical findings and modes of transmission.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessive
- Age of onset
- Infancy, Neonatal