Brachytelephalangic chondrodysplasia punctata

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.

Disease data

Classification

Malformation syndrome

ORPHA code

79345

OMIM code

602497

ICD10 code

Q77.3

ICD11 code

*Soruce