Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome

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Synonyms: EDSS | EDSS1

Ectodermal dysplasia-syndactyly syndrome is a rare genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair eyebrows and eyelashes (with pili torti when present) widely spaced conical-shaped teeth with peg-shaped conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis associated with partial cutaneous syndactyly in hands and feet.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome?

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