The ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome

Abstract

A search of the literature over the past 150 years reveals 19 proband cases of lobster claw deformity of the extremities and clefting of the primary and secondary palate. Some authors have reported that a few of these cases also have an atypical form of ectodermal dysplasia in which the skin is fair and the hair fine and light colored, and a tooth enamel dysplasia but normal salivary, sweat, and sebaceous gland function. Atresia of the lacrimal puncta may also be a part of this syndrome which has been designated the ectrodactyly‐ectodermal dysplasia‐clefting (EEC) syndrome. This report describes two unrelated females who appear to have the EEC syndrome, thereby bringing the total probable cases to five, two of which occurred in affected families (Walker & Clodius 1963, Cockayne 1936) and three of which were sporadic (Rudiger et al. 1970, this report). Dominant inheritance with incomplete penetrance is suggested.

EEC syndrome without ectrodactyly? Report of 8 cases

“…In a literature review of EEC syndrome we found 70 cases with the complete triad and 95 case reports (54 cases from 17 families) with at least two cardinal symptoms of the EEC syndrome. We think most of these 95 cases demonstrated partial manifestations of the EEC syndrome (Bixler et al 1972, Fried 1972, Preus & Fraser 1973, Reed et al 1974, Lurie et al 1976, Lewis & Pashayan 1981. Familial cases of the complete EEC syndrome were reported by Brill et al (1972), Cockayne (1936), Pashayan et al (1974), Penchaszadeh & de Negrotti (1 976), Pfeiffer & Verbeck (1 973), Robinson et al (1973), Rosenmdnn et al (1976, Walker & Clodius (1963).…”

Association of generalized aggressive periodontitis and ectrodactyly-ectodermal dysplasia-cleft syndrome

“…[1] Although each defect that comprises the syndrome has been known to occur as a separate entity, the constellation of all the three anomalies appears to be a rare occurrence. [2] Celli et al . [1] reported that the mutation in p63 gene-a homolog of p53 gene-is found to be associated with EEC syndrome.…”

Familial clefting syndrome with ectropion and dental anomaly — without limb anomalies

“…Hypodontia has also been reported in Dutch Mennonites (Witkop 1965), the same geographical and religious background of our family, and therefore, a possible source of an associated gene. Our kindred also show some of the features of the ectrodactyly-ectodermal dysplasia-clefting syndrome (Bixler et al 1972) and Rapp Hodgkins syndrome (Rapp & Hodgkin 1968). Lateral displacement of the medial canthi with cleft lip and palate are also part of the Waardenberg syndrome.…”