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Ectrodactyly ectodermal dysplasia cleft syndrome (Visit Resource)

Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) is an autosomal dominant disorder characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefting (Celli, Duijf, Hamel, et al. 1999). Other features noted in association with EEC include vesicoureteral reflux, recurrent urinary tract infections (Ramirez, Lammer, 2004), obstruction of the nasolacrimal duct (Peterson-Falzone, Hardin-Jones, Karnell, 2001), decreased pigmentation of the hair and skin, missing or abnormal teeth, enamel hypoplasia, absent punctae in the lower eye lids, photophobia, occasional cognitive impairment and kidney anomalies, (Shprintzen, 1997) and conductive hearing loss (Brunner, Hamel, van Bokhoven, 2002; Shprintzen, 1997). Ectrodactyly involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand-split foot malformation (SHFM), (Moerman and Fryns, 1996; Brunner et al., 2002). The hands and feet of people with ectrodactyly are often described as "claw-like" and may include only the thumb and one finger (usually either the little finger, ring finger, or a syndactyly of the two) with similar abnormalities of the feet (Peterson-Falzone, et al., 2001).

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Added: Mon Nov 27 2006

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