Ectodermal dysplasia-syndactyly syndrome

Definition:

Ectodermal dysplasia-syndactyly syndrome (EDSS) is a rare form of ectodermal dysplasia characterized by co-existence of abnormalities in skin/skin-derived structures and bilateral partial cutaneous syndactyly. The causative gene of EDSS is PVRL4, a cell adhesion molecule implicated in cadherin-based adherens junctions.

References:

[1]. Francesco Brancati, et al. Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. Am J Hum Genet. 2010 Aug 13;87(2):265-73. [Content Brief]

[2]. Musharraf Jelani, et al. Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1). J Hum Genet. 2011 May;56(5):352-7. [Content Brief]

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