Ectrodactyly And Ectodermal Dysplasia Without Cleft Lip/palate

Clinical Features

In 4 generations of a Mauritian family, Wallis (1988) described ectrodactyly (split-hand/split-foot) and ectodermal dysplasia without clefting of the lip or palate as is seen in the classic EEC syndrome (see 129900). The ectrodactyly ranged from virtual normality to severe tetramelic deficiencies. The ectodermal dysplasia was manifested as hypotrichosis and abnormal dentition. There was 1 'skipped generation'; no male-to-male transmission was observed. Sporadic cases of split-hand/split-foot with ectrodactyly but with normal lip and palate have been reported, and this phenotype has been documented as part of the variable expressivity in some EEC families. However, the existence of a separate familial syndrome of ectrodactyly-ectodermal dysplasia without clefting had not been described previously. Wallis (1988) suggested that it represents a distinct entity. The considerable variability in the EEC syndrome makes this by no means certain.