Laboratory Studies

See the list below:

Although diagnosis of van der Woude syndrome is primarily clinical, chromosomal analysis may be appropriate. This technology is rapidly improving and may be noninvasively performed using tissue that is easily obtained, transported, and stored, such as a piece of fingernail.

Imaging Studies

See the list below:

When planning surgical intervention, imaging studies of affected areas, such as CT scanning of the oropharynx, may be appropriate. Fistulography of lip pits may help to determine their depth and course.

Other Tests

See the list below:

Intelligence and cognitive testing may demonstrate abnormalities; these have been shown in one study to affect males more than females.^[7]

Treatment & Management

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Media Gallery

Cleft lip and cleft palate in an infant with van der Woude syndrome. (Photo courtesy of Mary J. Hauk, DDS.)
Closer view of cleft lip and cleft palate in an infant with van der Woude syndrome, showing raised pits of lower lip. (Photo courtesy of Mary J. Hauk, DDS.)
Intraoral view of cleft lip and cleft palate in an infant with van der Woude syndrome. (Photo courtesy of Mary J. Hauk, DDS.)