X-linked chondrodysplasia punctata 1

Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic 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, and mild and nonrhizomelic shortness of the long bones.

Also known as: ARSE X-linked chondrodysplasia punctata, X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata caused by mutation in ARSE, X-linked chondrodysplasia punctata caused by mutation in arse, arse X-linked chondrodysplasia punctata, brachytelephalangic chondrodysplasia punctata, chondrodysplasia punctata, X-linked recessive, X-linked recessive, CDPX1

0 clinical trials for this condition and its sub-types, 0 tagged with X-linked chondrodysplasia punctata 1 itself.