X-linked chondrodysplasia punctata 2

MONDO:0020603

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.

Also known as: CDPX2, CDPXD, Conrad Hunermann Happle syndrome, Conradi Hunermann syndrome, Conradi Hünermann Syndrome, Conradi-Hunermann syndrome, Conradi-Hunermann-Happle syndrome, Conradi-Hünermann-Happle syndrome

80 clinical trials for this condition and its sub-types.

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