Hay–Wells syndrome

Also known as: AEC syndrome

Ankyloblepharon, ectodermal dysplasia and clefting.

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 SAM-domain mutations.

Gene(s) involved (1)

TP63

Symptoms & signs (6)

ankyloblepharoncleft palatehypodontianail dystrophyscalp erosionssparse hair

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