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X-linked dominant chondrodysplasia punctata

Disease definition

X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.

ORPHA:35173

  • Synonym(s):
    • CDPX2
    • CDPXD
    • CPXD
    • Chondrodystrophia calcificans congenita
    • Conradi-Hünermann-Happle syndrome
    • X-linked chondrodysplasia punctata type 2
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: X-linked dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q77.3
  • OMIM: 302960
  • UMLS: C0263627  C0282102
  • MeSH: -
  • GARD: 6189
  • MedDRA: -

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