Chondrodysplasia Punctata OMIM

Description: Chondrodysplasia punctata (CPD) is a clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. X-linked dominant CPD, also known as Conradi-Hunermann syndrome, is the most well-characterized form. See 118650 for a possible autosomal dominant form of CPD. There are 2 brachytelephalangic forms of CPD: an X-linked recessive form (CPDX1; 302950), caused by mutation in the ARSE gene (300180), and a possible autosomal form (BCDP; 602497). There is also an autosomal dominant tibia-metacarpal type (118651). In addition, CPD can be caused by maternal vitamin K deficiency or warfarin teratogenicity (see 118650). CLINICAL FEATURES CDPX2 patients display skin defects including linear or whorled atrophic and pigmentary lesions, striated hyperkeratosis, coarse lusterless hair and alopecia, cataracts, and skeletal abnormalities including short stature, rhizomelic shortening of the limbs, epiphyseal stippling, and craniofacial defects (Derry et al., 1999).