Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome):Report of a family and review of the literature

Abstract

A family is described in which a father and son are affected with ectrodactyly, ectodermal dysplasia and cleft palate. This particular constellation of major malformations may constitute a variant form of the EEC syndrome which characteristically includes cleft lip with or without cleft palate. From a review of the cases previously reported in the literature, autosomal dominant inheritance is the most likely mode of transmission of these conditions.

Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome)

“…[3] In our case, ectrodactyly was present with respect to right-hand index finger, along with the syndactyly of right-hand middle and ring finger and third, fourth toes of right foot. The syndactyly involved right-hand fingers and toes, but the function of extremities was not profoundly affected though cases reported by most of the other authors[3410] have had more severe limb defects.…”

“…Both forms are inherited as autosomal dominant traits with variable expressivity, involving partial penetrance in the former and complete penetrance in the latter. [10]…”

“…[10] The occurrence of all three disorders in one, i.e., ectrodactyly, ED, and cleft lip/palate is reported to be approximately 1.5 per 100 million. [3] In our case, ectrodactyly was present with respect to right-hand index finger, along with the syndactyly of right-hand middle and ring finger and third, fourth toes of right foot.…”

Ectrodactyly-ectodermal dysplasia-clefting syndrome: the oral hygiene management of a patient with EEC

“…Ectrodactyly‐ectodermal dysplasia‐cleft syndrome (EEC) is a rare form of ectodermal dysplasia that is characterized by ectrodactyly ectodermal dysplasia, and facial clefting 1–14 . Ectrodactyly is a rare congenital deformity of the hand in which the middle digit is missing, and the hand is cleft at the metacarpal area.…”

“…Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC) is a rare form of ectodermal dysplasia that is characterized by ectrodactyly, ectodermal dysplasia, and facial clefting. [1][2][3][4][5][6][7][8][9][10][11][12][13][14] Ectrodactyly is a rare congenital deformity of the hand in which the middle digit is missing, and the hand is cleft at the metacarpal area. The hand appears to look like a lobster claw, thus the nickname "lobster claw deformity" 9 ( Figure 1).…”