Conradi-Hünermann syndrome (CDPX2, chondrodysplasia punctata 2; chondrodysplasia punctata, X-linked dominant form; Conradi-Hünermann-Happle syndrome, Happle syndrome)
Are You Confident of the Diagnosis? Conradi-Hünermann syndrome is a rare genetic disease, which presents with skeletal, ocular and cutaneous anomalies with asymmetric involvement of the body. It is caused by mutations in the gene encoding delta (8)-delta (7) sterol isomerase emopamil-binding protein (EBP) and is inherited in an X-linked dominant pattern with variable expressivity,…
