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Van der Woude syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Van der Woude syndrome

Van der Woude syndrome is a genetic condition affecting facial development, most commonly characterized by cleft lip or palate and depressions on the lower lip.

Description

Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with either a cleft lip or a cleft palate (an opening in the upper lip or roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth.

People with van der Woude syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with van der Woude syndrome is not significantly different from that of the general population.

Frequency

Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 people, based on data from Europe, Asia, and Africa. Van der Woude syndrome is the most common cause of cleft lip and palate resulting from genetic variations.

Causes

Variations (also known as mutations) in the IRF6 gene cause most cases of van der Woude syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The IRF6 protein is active in cells that give rise to tissues in the head and face. It is also involved in the development of other parts of the body, including the skin and genitals.

Variants in the IRF6 gene that cause van der Woude syndrome prevent one copy of the gene in each cell from making any functional protein. A shortage of the IRF6 protein affects the development and maturation of tissues in the face, resulting in the signs and symptoms of van der Woude syndrome.

In about five percent of cases, van der Woude syndrome is caused by variants in the GRHL3 gene.

Genes associated with Van der Woude syndrome

  • IRF6
  • GRHL3

Inheritance

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Occasionally, an individual who has a copy of the altered gene does not show any signs or symptoms of the disorder.

Other Names for This Condition

  • Cleft lip and/or palate with mucous cysts of lower lip
  • Lip-pit syndrome
  • VDWS
  • VWS

Frequently Asked Questions

Diagnosis starts with a physical exam noting cleft lip/palate and lower‑lip pits. Genetic confirmation is done by sequencing the IRF6 gene; a single‑gene test can identify pathogenic variants in most cases. If a family mutation is known, targeted testing can be done on relatives. Genetic counseling is recommended before and after testing.
Many individuals have missing or malformed teeth, especially in the lower jaw. Early dental evaluation is advised, often starting in early childhood. Orthodontic treatment may be required to align teeth, close gaps, and correct bite issues. Dental implants or prosthetics may be considered later in adolescence or adulthood. Regular dental check‑ups and cleanings are essential to prevent periodontal disease.
Since the condition is autosomal recessive, both parents may be carriers. Prenatal testing (chorionic villus sampling or amniocentesis) can detect the known IRF6 mutation. Pre‑implantation genetic diagnosis (PGD) with in‑vitro fertilization allows selection of embryos without the mutation. Genetic counseling can guide reproductive options and discuss the 25% recurrence risk.
Cleft lip repair is usually done between 3 and 6 months of age, while cleft palate surgery is performed between 9 and 18 months. Multiple surgeries may be needed to refine function and appearance. Early intervention improves feeding, speech, and hearing outcomes. Surgeons often coordinate with speech therapists and audiologists for comprehensive care.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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