Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

Definition:

Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is a rare autosomal dominant genetic disorder. This condition is a combination of ectrodactyly, the lobster claw-like deformities of the hands and feet, ectodermal dysplasia affecting skin, hair, and nails, and cleft lip with or without cleft palate. Other symptoms include anomalies of eyes and urinary tract.

References:

[1]. A Rosenmann, et al. Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature. Clin Genet. 1976 Mar;9(3):347-53. [Content Brief]

[2]. Beatriz Moritz Trope, et al. Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. An Bras Dermatol. 2010 Jul-Aug;85(4):573-5. [Content Brief]

[3]. J Celli, et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell. 1999 Oct 15;99(2):143-53. [Content Brief]

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