Van der Woude syndrome 2
Overview
A syndrome which is characterised by multiple congenital abnormalities.
Symptoms
* Cleft lip * Limb abnormalities * Cleft palate * High arched palate * Jaw adhesion * Hypodontia * Tongue tie * Congenital heart defects
Causes
van der Woude syndrome is transmitted in autosomal dominant fashion. ,Penetrance has been reported to be 75% but is likely closer to 100% if supposedly unaffected carriers are closely examined for minor expressions of the syndrome., The gene for van der Woude syndrome has been localized to chromosome 1q32-q41. Intriguing linkage studies have suggested that a second modifying gene mapped to chromosome 17p11.2-p11.1 may influence the degree of phenotypic expression of a gene defect at this locus. A second chromosome locus for van der Woude syndrome has been mapped to 1p34. ,The interferon regulatory factor-6 (IRF-6) gene has been tentatively identified as the specific gene responsible for van der Woude syndrome; this gene has been shown to regulate fetal craniofacial development in mice
Treatment
Plastic surgery can repair cleft lip and palate. Lip pits are often removed surgically. Dentists and plastic surgeons can repair other problems with the teeth or jaws. Genetic counseling for individuals with van der Woude syndrome is important. A parent with only mild symptoms needs to know his/her child would be at risk for serious mouth and face malformations, since the syndrome’s effects may vary even from parent to child. Since van der Woude syndrome is an autosomal dominant disorder, each of this parent’s children would have a 50% chance of inheriting the syndrome. The gene for van der Woude syndrome has been identified on chromosome 1, but genetic testing for it is available at only a few laboratories.