X-linked dominant chondrodysplasia punctata

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X-linked dominant chondrodysplasia punctata

Synonyms: CDPX2 | CDPXD | CPXD | Chondrodystrophia calcificans congenita | Conradi-Hünermann-Happle syndrome | X-linked chondrodysplasia punctata type 2

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version December 2023

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X-linked dominant chondrodysplasia punctata?

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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.