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Conradi-Hunermann-Happle syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

  • characterised by linear ichthyosis, chondrodysplasia punctata, short stature, cataract

  • X-linked dominant inheritance - causative mutations have been identified in a large number of patients in the gene for emopamil binding protein (this gene is located on the short arm of Xp11.22-23 and also acts as a D8-D7 sterol isomerase which plays a crucial role in cholesterol biosynthesis)

Reference:

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