What Is Van der Woude Syndrome?

What Is Van der Woude Syndrome?

Van der Woude syndrome is the most common genetic syndrome associated with cleft lip and palate, accounting for about 1–2% of all cleft cases. It is caused by a mutation in the IRF6 gene.

• Key features:
• Cleft lip, cleft palate, or both (present in most cases)
• Lower lip pits (small depressions in the lower lip) — the hallmark feature
• Missing teeth (hypodontia)
• Normal intelligence
• Normal growth and development otherwise

• How it is inherited:
• Autosomal dominant pattern
• Only one copy of the gene mutation is needed
• Each child of an affected parent has a 50% chance of inheriting it
• Some people with the gene have only lip pits (no cleft)
• The severity varies between family members

• Diagnosis:
• Physical examination (looking for lip pits)
• Genetic testing for the IRF6 gene
• Family history evaluation
• Sometimes diagnosed after a child is born with a cleft

• Treatment:
• Same surgical treatment as other cleft patients
• Cleft lip repair (3–6 months)
• Cleft palate repair (9–12 months)
• Bone grafting (6–10 years)
• Orthodontics and possible jaw surgery
• The lip pits do not need treatment

Clinical Guidance

Van der Woude syndrome causes cleft lip/palate with distinctive lower lip pits. It is inherited in an autosomal dominant pattern. Children with Van der Woude have normal intelligence and respond to standard cleft treatments.