Van der Woude syndrome

Also known as: Lip pit-cleft syndrome

Cleft lip and palate with lower lip pits.

Medical specialty: Dentistry
Subspecialty: Dentistry / Oral and maxillofacial surgery
Sex & age distribution: Male: affected; Female: affected; Children: yes, congenital
Gene(s) involved: GRHL3, IRF6

Etiology & mechanism

IRF6 mutation.

Gene(s) involved (2)

GRHL3IRF6

Symptoms & signs (4)

cleft lipcleft palatehypodontialower lip pits

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