Conradi Hunermann Happle
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Conradi-Hunermann-Happle (CHH) syndrome is a type of X-linked dominant ichthyosis. Other etiologies in this category include congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome). CHH is also known as X-linked dominant chondrodysplasia punctata. As an X-linked dominant disorder, CHH is lethal in males except for males with XXY phenotype or in the case of mosaicism. This disorder is exceedingly rare [1, 2].
- 2.Canueto J, Giros M, Ciria S, et al. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hunermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. Br J Dermatol. 2012;166(4):830–8.CrossRefGoogle Scholar