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.
Authors
- Neha Akhoon
- Shivani Ranjan (ORCID: https://orcid.org/0000-0002-3336-448X)
Institutions
- Government Medical College (IN)
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
- 0.00