he EEC Syndrome (Ectrodactyly, Ectodermal Dysplasia, Cleft Lip and Palate)


Inheritance: autosomal dominant, with variable inheritance and penetrance

Locus: 3q27

Gene: p63


Key features:

(1) ectrodactyly (“lobster claws”) affecting hands and feet

(2) ectodermal dysplasia

(3) cleft lip and/or palate (variable)


Other findings may include:

(1) conductive hearing loss

(2) keratitis

(3) lacrimal duct stenosis

(4) conjunctivitis

(5) variable defects in skin, hair, nail and/or teeth


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