title: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate (EEC) syndrome without clefting: a rare case report.
abstract: Ectrodactyly, Ectodermal dysplasia, and Cleft lip-cleft palate (EEC) syndrome is a rare ectodermal dysplasia presenting with various combinations of its three components. It is an autosomal dominant disorder with variable expression and penetrance. Patients have features of ectodermal abnormalities and a split hand/foot deformity of the limbs. We report a case of this rare disorder in a 40-year-old male who had ectrodactyly, ectodermal dysplasia, but no clefting of lips or palate.
authors.affiliation: Department of Dermatology, Bangalore Medical College and Research Institute, Bangalore, India.
authors.forename: Dipali D
authors.initials: DD
authors.lastname: Malvankar
authors.forename: S
authors.initials: S
authors.lastname: Sacchidanand
authors.forename: M
authors.initials: M
authors.lastname: Mallikarjun
mesh_terms: D000328:Adult; D002971:Cleft Lip / Q000175:diagnosis; D002972:Cleft Palate / Q000175:diagnosis; D003318:Corneal Opacity / Q000151:congenital / Q000175:diagnosis; D004476:Ectodermal Dysplasia / Q000175:diagnosis*; D005385:Fingers / Q000002:abnormalities; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis; D006228:Hand Deformities, Congenital / Q000175:diagnosis*; D006801:Humans; D007634:Keratitis / Q000151:congenital / Q000175:diagnosis; D007767:Lacrimal Duct Obstruction / Q000151:congenital / Q000175:diagnosis; D017880:Limb Deformities, Congenital / Q000175:diagnosis; D008297:Male; D020795:Photophobia / Q000151:congenital / Q000175:diagnosis; D013577:Syndrome; D016896:Treatment Outcome; D058457:Trichiasis / Q000151:congenital / Q000175:diagnosis