/X-linked chondrodysplasia punctata 2

X-linked chondrodysplasia punctata 2

Rare Disease

MONDO:0020603

Also Known As

CDPX2CDPXDConrad Hunermann Happle syndromeConradi Hunermann syndromeConradi Hünermann SyndromeConradi-Hunermann syndromeConradi-Hunermann-Happle syndromeConradi-Hünermann-Happle syndromeEBP chondrodysplasia punctataHapple syndromeX-linked chondrodysplasia punctata type 2chondrodysplasia punctata 2 X-linked dominantchondrodysplasia punctata 2, X-linked dominantchondrodysplasia punctata caused by mutation in EBPchondrodysplasia punctata, X-linked dominant, X-linked dominant

Definition

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.