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GTR Home > Conditions/Phenotypes > Ectodermal dysplasia-syndactyly syndrome 1

Ectodermal dysplasia-syndactyly syndrome 1

Summary

Ectodermal dysplasia-syndactyly syndrome (EDSS) is characterized by sparse to absent scalp hair, eyebrows, and eyelashes, hypoplastic nails, tooth enamel hypoplasia, conical-shaped teeth, palmoplantar keratoderma, and partial cutaneous syndactyly (summary by Raza et al., 2015). Genetic Heterogeneity of Ectodermal Dysplasia-Syndactyly Syndrome Ectodermal dysplasia-syndactyly syndrome-2 (EDSS2; 613576) maps to chromosome 7p21-p14. [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: EDSS1, LNIR, PRR4, PVRL4, nectin-4, NECTIN4
    Summary: nectin cell adhesion molecule 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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