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X-linked dominant chondrodysplasia punctata

Disease definition

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.

ORPHA:35173

Classification level: Disorder
  • 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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