Wednesday, November 27, 2013

Van der Woude syndrome: clefts and missing teeth

Van der Woude syndrome is a rare genetic disorder with autosomal dominant inheritance, occurring in about 1 of every 1,00,000–2,00,000 people. It is characterized by pits and sinuses of the lower lip and cleft lip with or without cleft palate.  Approximately 88% of VWS patients display lower lip pits, usually circular or oval, and in about 64% of cases lip pits are the only visible defect.

The frequency of orofacial clefts ranges from 1:1000 to 1:500 births worldwide, and there are more than 400 syndromes that involve cleft lip with or without cleft palate. Van der Woude syndrome is distinct from other clefting syndromes due to the combination of cleft lip and palate and cleft palate within the same family. Other oral abnormalities frequently associated with this disorder include hypodontia (missing up to five permanent teeth because the tooth fails to develop) in 10-81% of cases, narrow arched palate, ankyloglossia (restricted movement of the tongue tip) and congenital adhesion of the jaws. Anomalies such as congenital heart disease, heart murmur, brain abnormalities, syndactyly of the hands (two or more fingers fused together) and accessory nipples may be present too.

The association between lower lip pits and cleft lip and/or palate was first described by Anne Van der Woude in 1954. The worldwide prevalence of this syndrome ranges from 1:100,000 to 1:40,000 stillborn or live births. It is usually underreported and frequently remains undiagnosed.

  Facial appearance of young patient with van der Woude syndrome - the upper central incisors are hanging down, other upper teeth are missing and pits are visible in the lower lip. Image from: Soni et al. 2012.

Soni et al. have described the case of a ten-year-old boy from India suffering from this disorder. The patient's chief complaint was nasal regurgitation during eating. He also wanted esthetic correction of his face. The family history did not reveal any sign of cleft lip and palate. He had been born after an uneventful full-term pregnancy, with no history of medication or mother's illness during pregnancy. At the age of ten months, he had undergone surgery to repair a cleft lip.

His upper central incisors were hanging down, the lower lip showed small pits and two clefts were present in the roof of his mouth. Moreover,  the maxillary arch was constricted with two lateral incisors missing entirely.

Van der Woude syndrome. Inside the mouth, two clefts are visible in the region of the upper jaw.
Image from: Soni et al. 2012.

The lip pits associated with Van der Woude syndrome may be surgically removed either for esthetic reasons or discomfort due to inflammation caused by bacterial infections or chronic saliva excretion, though spontaneous shrinkage has occurred in some cases. Other defects, including cleft lip and/or palate, congenital heart defects, etc. are surgically corrected or otherwise treated as appropriate. In the case described above, the patient reported recurrent respiratory tract infections, breathlessness, regurgitation of food, and nasal twang during speaking. Surgical correction of cleft lip and palate was indicated.

Soni, R, Vivek R, Srivastava A, Singh A, Srivastava S, Chaturvedi TP. (2012) Van der Woude Syndrome Associated with Hypodontia: A Rare Clinical Entity.Case Rep Dent. 2012; 2012: 283946. doi: 10.1155/2012/283946

Wikipedia: Van der Woude syndrome

No comments:

Post a Comment