Van der Woude syndrome
- Cleft lip and/or palate with mucous cysts of lower lip
- Lip pit syndrome
Tests & Diagnosis
Lip pits and cleft lip AND/OR palate (CLP). Lip pits must be paramedian on the lower lip, and can include mounds with a sinus tract leading from a mucous gland of the lip.
Lip pits alone and a first-degree relative with CLP
CLP and a first-degree relative with lip pits
- Durda KM, Schutte BC, Murray JC. IRF6-Related Disorders. GeneReviews. March 2011; http://www.ncbi.nlm.nih.gov/books/NBK1407/. Accessed 8/1/2011.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.