X-linked chondrodysplasia punctata 2
X-linked chondrodysplasia punctata 2
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.
Also known as CDPX2, CDPXD, chondrodysplasia punctata 2 X-linked dominant, chondrodysplasia punctata 2, X-linked dominant, chondrodysplasia punctata caused by mutation in EBP, chondrodysplasia punctata, X-linked dominant, X-linked dominant, Conrad Hunermann Happle syndrome, Conradi Hunermann syndrome, Conradi-Hunermann syndrome, Conradi-Hunermann-Happle syndrome, EBP chondrodysplasia punctata, Happle syndrome, X-linked chondrodysplasia punctata type 2 — per MONDO