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Cleft lip/palate-ectodermal dysplasia syndrome

rare

An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.

Identifiers
MONDO:0009151 OMIM:225060Orphanet:320317Orphanet:3253
Causal genes
NECTIN1
Part of
Autosomal recessive diseaseEctodermal dysplasia syndromeOrofacial cleft
Also known as
autosomal recessive ectodermal dysplasia · Bustos Simosa pinto Cisternas syndrome · cleft lip/palate-syndactyly-pili torti · cleft lip/palate-syndactyly-pili torti syndrome · CLEPD

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