Overview
Van der Woude syndrome (VWS), also known as lip pit syndrome, is the most common syndromic form of cleft lip and/or cleft palate. It is a congenital craniofacial disorder primarily caused by mutations in the IRF6 gene (interferon regulatory factor 6) on chromosome 1q32-q41. The condition is characterized by the combination of lower lip pits (paramedian sinuses or fistulae of the lower lip), cleft lip with or without cleft palate, and/or cleft palate alone. Lower lip pits are the most distinctive feature and are present in approximately 80% of affected individuals. Hypodontia (missing teeth) is also a commonly associated finding. The syndrome primarily affects the craniofacial system, particularly the lips, palate, and dentition. The lower lip pits appear as small depressions or mounds on the vermilion border of the lower lip, often bilateral and symmetrical, and may produce mucous secretions. Cleft lip and/or cleft palate occurs in approximately 50% of affected individuals. A submucous cleft palate or bifid uvula may also be present. The expressivity of the syndrome is highly variable, even within the same family — some individuals may have only lip pits, while others may have a complete cleft lip and palate. Rarely, limb anomalies or other features may be present, which may suggest the allelic condition popliteal pterygium syndrome. Treatment for Van der Woude syndrome is primarily surgical and supportive. Cleft lip and palate are repaired through standard surgical approaches, typically in infancy and early childhood. Lip pits may be surgically excised for cosmetic reasons or if they cause recurrent drainage or infection. Dental anomalies may require orthodontic treatment or dental prosthetics. Speech therapy may be needed for individuals with palatal clefts. Genetic counseling is recommended for affected families given the autosomal dominant inheritance pattern. With appropriate multidisciplinary care, individuals with VWS generally have an excellent prognosis and normal life expectancy.
Clinical phenotype terms— hover any for plain English:
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
7 eventsFoundation University Islamabad
Universidad Nacional Autonoma de Mexico — NA
Cairo University — NA
Afyonkarahisar Health Sciences University — NA
Tanta University — PHASE4
Baskent University — NA
Cairo University — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Van der Woude syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Van der Woude syndrome at this time.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Van der Woude syndrome.
Community
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Start the conversation →Latest news about Van der Woude syndrome
Disease timeline:
New recruiting trial: Clinical Evaluation of Two Different Pit and Fissure Sealants
A new clinical trial is recruiting patients for Van der Woude syndrome
New recruiting trial: Comparison of the Efficacy of Three Preventive Methods to Reduce the Incidence of Coronal Caries in Schoolchildren
A new clinical trial is recruiting patients for Van der Woude syndrome
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Family & Caregiver Grants
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Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about Van der Woude syndrome
What is Van der Woude syndrome?
Van der Woude syndrome (VWS), also known as lip pit syndrome, is the most common syndromic form of cleft lip and/or cleft palate. It is a congenital craniofacial disorder primarily caused by mutations in the IRF6 gene (interferon regulatory factor 6) on chromosome 1q32-q41. The condition is characterized by the combination of lower lip pits (paramedian sinuses or fistulae of the lower lip), cleft lip with or without cleft palate, and/or cleft palate alone. Lower lip pits are the most distinctive feature and are present in approximately 80% of affected individuals. Hypodontia (missing teeth) is
How is Van der Woude syndrome inherited?
Van der Woude syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Van der Woude syndrome typically begin?
Typical onset of Van der Woude syndrome is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Van der Woude syndrome?
13 specialists and care centers treating Van der Woude syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.