ORPHA:35173

X-linked dominant chondrodysplasia punctata

Also called CDPX2, CDPXD, CPXD, Chondrodystrophia calcificans congenita, Conradi-Hünermann-Happle syndrome, X-linked chondrodysplasia punctata type 2

Body system

Inborn errors of metabolism

Inheritance pattern

X-linked dominant

Typical age of onset

Antenatal, Infancy, Neonatal

Estimated prevalence

1-9 / 1 000 000 (Europe)

Rarity class

1-9 / 1 000 000

ORPHA:35173 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.