Conradi-Hünermann-Happle syndrome
Conradi-Hünermann-Happle syndrome
Clinical features Conradi-Hünermann-Happle syndrome is an X-linked dominant congenital ichthyosis with associated chondrodysplasia punctata. It is lethal in the majority of male embryos. Chondrodysplasia punctata is defined as a stippled calcification of the epiphyses. There are several forms but only the type 2 variant presents with severe ichthyosiform erythroderma. Later the