Ectrodactyly, ectodermal dysplasia and clefting eec syndrome article pdf available in journal of the european academy of dermatology and venereology 173. Symptoms can vary greatly from one person to another. The most common type is eec 3 in this document, we will refer to the latter as eec. Ectrodactylyectodermal dysplasiacleft syndrome wikipedia. Ectrodactylyectodermal dysplasia clefting syndrome also ka. Ectrodactyly ectodermal dysplasia cleft lippalate eec syndrome is a rare genetic disorder.
Only one family has been identified with eec 1 and 2. Ectrodactylyectodermal dysplasiaclefting syndrome eec is a rare genetic condition characterized by. Affected individuals often have abnormalities affecting the limbs including ectrodactyly, a condition in which part or all of the central digits. Eec syndrome can be divided into two different types defined by the underlying cause. Ectrodactylyectodermal dysplasiaclefting syndromedefinitionectrodactylyectodermal dysplasiaclefting eec syndrome is one of more than 100 ectodermal dysplasia syndromes. Ectrodactylyectodermal dysplasia clefting syndrome is a rare genetic disorder characterized by the triad of ectrodactylyectodermal dysplasia and facial clefting of lip or palate or both along. The of individuals with eec syndrome are thought to have a mutation in a region on chromosome 7, known as eec syndrome type 1. Ectrodactylyectodermal dysplasiaclefting syndrome studies maranke koster, ph. An infant is reported with a complete form of the ectrodactylyectodermal dysplasia clefting eec syndrome, inherited from his mother, who has a partial expression of the condition, without clefting. Ectrodactylyectodermal dysplasiaclefting syndrome eec. Ectrodactylyectodermal dysplasiacleft syndrome, or eec, and also referred to as eec syndrome and split handsplit footectodermal dysplasiacleft syndrome. Ectrodactylyectodermal dysplasiaclefting syndrome is a rare congenital anomaly that affects tissues of mesodermal and ectodermal origin. Eec syndrome is characterized by deformities of the hands and feet ectrodactyly, abnormalities of the skin, hair, and nails ectodermal dysplasia, and cleft lip andor cleft palate clefting. Ectrodactylyectodermal dysplasiaclefting eec syndrome.
This observation stresses the phenotypic variability. More than 90% of individuals have eec syndrome type 3, caused by mutations in the tp63 gene. Eec syndrome can be divided into two different types defined by the. Ectrodactylyectodermal dysplasiaclefting syndrome is an uncommon disorder that includes a clinical spectrum of limb, facial, ocular, internal ear, and urogenital malformations. Association of ectrodactyly, ectodermal dysplasia, and cleft lippalate. Bixler d, spivack j, bennett j, et al the ectrodactylyectodermal dysplasiaclefting eec syndrome. Eec syndrome genetic and rare diseases information. Ectrodactylyectodermal dysplasia clefting syndrome eec. Ectrodactyly ectodermal dysplasia cleft lippalate nord.