Ectodermal Summary



Individuals with Kabuki syndrome can have hyperelastic skin, suggestive of a connective tissuei disorder. The hands feel soft and are short with short fingers, in particular the fifth fingers. Persistent fetal fingertip pads is highly characteristic of Kabuki syndrome. Mild cutaneousi syndactylyi is common, usually between fingers II/III or III/IV. Individuals can have abnormalities with the nails, hair and skin. Nails can be absent, incompletely formed and fragile. Brittle hair, irregualr diameter and twisting of shafts, and increased body hair have been rarely reported. Many parents report a rosy, dry appearance to their children’s cheeks for no apparent reason. A significant number of individuals have a sacral sinusi or dimple.

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