Brachytelephalangic chondrodysplasia punctata

What is Brachytelephalangic chondrodysplasia punctata?

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.

Inheritance type

X-linked recessive


  • Worldwide: Unknown

Age of Onset

  • Antenatal
  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "". Data version 1.3.16 / 4.1.7.