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Van Der Woude Syndrome

Van Der Woude Syndrome Causes

The syndrome is an autosomal dominant or sporadic inheritance caused by mutations of the IRF6 gene, located on chromosome 1 at 1q32-q41. Any change or alteration in a single gene on chromosome number one causes VWS. 95% of people who inherited said gene have some features of VWS. There are some though who do not show any features even if they inherited the gene.

Van Der Woude Syndrome Definition

Van der Woude syndrome is a condition affecting the development of the face. It is known for the acronym VDWS.

Van Der Woude Syndrome Diagnosis

Diagnosis of the condition is primarily clinical but a chromosomal analysis may be appropriate. Said technology is rapidly improving and may be noninvasively performed using tissue that is easily obtained, transported, and stored.

Van Der Woude Syndrome Symptoms and Signs

Most people with this disorder are born with a cleft lip, a cleft palate, or both. They also usually have depressions or pits near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. The lower lip may also show small mounds of tissue on the lower. There are cases where people with van der Woude syndrome have missing teeth.

Van Der Woude Syndrome Treatment

Those with cleft lip and cleft palate may require surgery. Even to individuals who are severely affected, surgical excision of lip pits is usually performed to alleviate the discomfort or for cosmetic reasons.

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