X-linked dominant chondrodysplasia punctata

What is X-linked dominant chondrodysplasia punctata?

A rare genodermatosis disease with great phenotypic variation and characterized most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

Other condition names

  • CDPX2
  • CPXD
  • Chondrodystrophia calcificans congenita
  • Conradi-Hünermann-Happle syndrome
  • X-linked chondrodysplasia punctata type 2

Inheritance type

X-linked dominant

Age of Onset

  • Infancy
  • Neonatal
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