Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
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