Ectrodactyly–ectodermal dysplasia–clefting syndrome

Also known as: EEC syndrome

Split hand and foot, ectodermal dysplasia and orofacial clefts.

Medical specialty: Dermatology
Subspecialty: Dermatology / Ectodermal dysplasias
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, from birth
Gene(s) involved: TP63

Etiology & mechanism

Dominant-negative p63 mutations.

Gene(s) involved (1)

TP63

Symptoms & signs (6)

cleft lip and palatehypodontiahypohidrosislacrimal duct obstructionsparse hairsplit hand and foot

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.