Brachytelephalangic chondrodysplasia punctata
ORPHA:79345· ICD-10 Q77.3
Definition
Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of non-rhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, as well as mild and non-rhizomelic shortness of the long bones.
- Prevalence
- Unknown
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal