X-linked dominant chondrodysplasia punctata

X-linked dominant chondrodysplasia punctata (CDPX2) is 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.

Rhizomelia

Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus).


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PMID (PMCID)