Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 3

Alternative Names

  • EEC3

Associated Genes

Tumor Protein p63
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

604292

Mode of Inheritance

Autosomal dominant

Gene Map Locus

3q28

Description

EEC syndrome is a rare autosomal dominant disorder, characterized by absence of fingers and toes, ectodermal dysplasia and cleft lip or cleft palate. Other features could be associated with the disease, such as abnormalities of the genitourinary system, conductive or sensorineural hearing loss, choanal atresia, mammary gland/nipple hypoplasia, ophthalmological findings, gland abnormalities and in rare cases, presence of a white sponge nevus, delayed developmental milestones, and malignant lymphoma.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
604292.1LebanonFemaleNoNo Scarring alopecia of scalp ; Coarse hai...NM_003722.4:c.1748A>THeterozygousAutosomal, DominantKawai et al, 2018
604292.2OmanMale Ectodermal dysplasia ; Cleft lip ; Cle...NM_003722.5:c.1766T>AHeterozygousAutosomal, DominantAl-Gazali and Ali, 2010
604292.3Saudi ArabiaMaleYes Polysyndactyly; Median cleft lip and pal...NM_003722.5:c.739C>THeterozygousAutosomal, DominantMaddirevula et al. 2018 De novo mutation
© CAGS 2024. All rights reserved.