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
