Rhizomelic chondrodysplasia punctata
ORPHA:177· ICD-10 Q77.3
Definition
A rare, primary bone dysplasia characterized by rhizomelic limb shortening, punctate calcifications in cartilage with epiphyseal and metaphyseal abnormalities (chondrodysplasia punctata) and coronal cleft vertebrae associated with profound postnatal growth deficiency, early-onset cataracts, severe intellectual disability and seizures.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal