Meyahealth
HomeGeneticsGeneIRF6 gene
Back to Gene
IRF6 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

IRF6 gene

The IRF6 gene provides instructions for a protein that is essential for the normal development of the head, face, skin, and genitals.

Normal Function

The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, meaning it attaches to specific regions of DNA to control the activity of particular genes. The IRF6 protein is active in cells that give rise to tissues in the head and face, and it is also involved in the development of the skin and genitals.

Health Conditions Related to Genetic Changes

Popliteal pterygium syndrome

Variants in the IRF6 gene cause popliteal pterygium syndrome. These variants may change the transcription factor's effects on gene activity, which disrupts the development and maturation of tissues in the face, skin, and genitals. This results in facial and genital abnormalities, skin webbing, and the fusion of fingers or toes (syndactyly).

Van der Woude syndrome

Variants in the IRF6 gene cause van der Woude syndrome, which affects the development of the face and often causes cleft lip, cleft palate, or both. Variants that cause this condition 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 skull and face.

Other disorders

Certain variations in the IRF6 gene have been associated with an increased risk of isolated cleft lip and/or palate. These variations are believed to affect the function of the IRF6 protein, which may interfere with the normal development of the face.

Other Names for This Gene

  • IRF6_HUMAN
  • LPS
  • OFC6
  • PIT
  • PPS
  • VWS
  • VWS1

Frequently Asked Questions

Van der Woude syndrome is autosomal‑dominant, meaning a single pathogenic IRF6 variant can cause the disorder. Each child of an affected parent has a 50 % chance of inheriting the variant. If the parent’s variant is de novo (new), the risk to siblings is low, but the parent’s future children still face a 50 % risk.
Early multidisciplinary care is essential. A pediatric dentist or orthodontist should evaluate the child within the first year to plan for dental arch development. Speech‑language pathology is typically started after palate repair (around 9‑12 months) to address articulation and resonance issues. Regular follow‑up with a craniofacial team helps coordinate surgeries, orthodontics, and speech therapy.
Key neonatal findings include skin webbing (pterygia) behind the knees or elbows, oral‑facial anomalies such as cleft lip/palate, lower lip pits, and genital abnormalities (e.g., bifid scrotum). Limb anomalies like syndactyly (fused fingers or toes) may also be present. Early referral to a genetics or craniofacial specialist is advised if any of these features are observed.
If a pathogenic IRF6 variant has been identified, options include chorionic villus sampling (CVS) at 10‑12 weeks or amniocentesis after 15 weeks for targeted molecular testing. Non‑invasive prenatal testing (NIPT) does not yet reliably detect single‑gene mutations like IRF6, so invasive testing is required for definitive results.
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.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ