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

Prevalence

  • Worldwide: Unknown

Age of Onset

  • Antenatal
  • Neonatal
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