Ectrodactyly–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome – Variable Presentation among First-degree Relatives of a Family

Ectrodactyly–ectodermal dysplasia–cleft lip/palate (EEC) syndrome is a rare genetic disorder that affects ectodermal derived structures, including teeth, nails, hair, and sweat glands along with ectrodactyly and clefting of lip/palate. This case series presents autosomal dominant transmission of EEC syndrome in a family and highlights the intrafamilial variations indicating variable penetrance.

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Publication Details

Journal
Indian Journal of Paediatric Dermatology
Published
2025-01-01
DOI
https://doi.org/10.4103/ijpd.ijpd_112_24
Primary Topic
Hedgehog Signaling Pathway Studies
Type
article
Field-Weighted Citation Impact
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article

Ectrodactyly–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome – Variable Presentation among First-degree Relatives of a Family

Neha Akhoon, Shivani Ranjan
Indian Journal of Paediatric Dermatology
Hedgehog Signaling Pathway Studies
article

Ectrodactyly–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome – Variable Presentation among First-degree Relatives of a Family

Neha Akhoon, Shivani Ranjan
article en

Abstract

Ectrodactyly–ectodermal dysplasia–cleft lip/palate (EEC) syndrome is a rare genetic disorder that affects ectodermal derived structures, including teeth, nails, hair, and sweat glands along with ectrodactyly and clefting of lip/palate. This case series presents autosomal dominant transmission of EEC syndrome in a family and highlights the intrafamilial variations indicating variable penetrance.

Indian Journal of Paediatric DermatologyVol. 26(1)
Government Medical College (IN)
Openalex Percentile: Top 95%
Hedgehog Signaling Pathway Studies
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