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

Abstract

The ectodermal dysplasias (EDs) are a large and complex group of diseases. More than 170 different clinical conditions have been recognized and defined as ectodermal dysplasias. Commonly involved ectodermal-derived structures are hair, teeth, nails, and sweat glands. In some conditions, it may be associated with mental retardation. We report a case of 10-year-old male child with ectrodactyly, syndactyly, ED, cleft lip/palate, hearing loss, and mental retardation.

Dental management of a child with ectrodactyly ectodermal dysplasia cleft lip/palate syndrome: A case report

“…In conformity with Marwaha and Nanda, dental caries and congenitally missing permanent teeth were interpreted in our case. However, they had declared taurodontism in all the primary molars and the first permanent molars.…”

“…This report coincides with ours in which ED, ectrodactyly and bilateral CLP were noticed. Marwaha and Nanda also presented a case with CLP and ectrodactyly of the right index finger. Additionally, syndactyly of the right middle and ring fingers and the right third and fourth toes was noted.…”

“…Mental retardation had been identified in some EEC patients . This was unlike what we had noticed with our patient and similar to what was reported by Marwaha and Nanda . Ali et al reported that the family history in their cases was noncontributory.…”

Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome: a rare entity

“…[4] It is a rare syndrome, with the frequency of ectrodactyly at 1.5/100,000 live births and 1/100,000 live births for cleft palate with or without a cleft lip. [5] The occurrence of all three disorders in one, that is, ectrodactyly, ectodermal dysplasia, and cleft lip/palate, is reported to be approximately 1.5/100 million. [6] EEC syndrome shows an autosomal dominant inheritance pattern with variable expressivity and incomplete penetrance, although autosomal recessive inheritance has also been reported.…”

Genetic Factors in Selected Complex Congenital Malformations with Cleft Defect

“…EEC is a rather rare syndrome, with an estimated incidence of about 1.5 : 1,000,000 live births. To date, about 200 cases have been described [26]. Some patients affected by EEC show a form of "incomplete syndrome," lacking, for example, the ectodermal components [27].…”