van der Woude Syndrome Follow-up

Updated: Apr 13, 2015
  • Author: Gregory P Conners, MD, MPH, MBA; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Follow-up

Deterrence/Prevention

See the list below:

  • Although van der Woude syndrome is transmitted by an autosomal dominant inheritance pattern, the degree of expression in affected families widely varies. Even monozygotic twins may be affected to markedly different degrees. [12]
  • Because the expressivity of the phenotype varies, the potential effects on unborn children are difficult to predict and may be of particular concern to parents. High-resolution ultrasonography and fetal echocardiography may be of some use in prenatally characterizing the severity of the phenotype.
  • Genetic counseling is recommended.
  • As genetic diagnostic and therapeutic methods advance, the principal syndromic form involving cleft lip and cleft palate may prove amenable to early detection and even preventive therapy.
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Complications

Cleft palate may be associated with feeding difficulties, voice disorders, frequent otitis media, and hearing loss. A study by Silvestre et al of pediatric patients with syndromic cleft lip and/or palate found that nearly a third tested positive for obstructive sleep apnea on the Pediatric Sleep Questionnaire. The study involved 178 patients, including those with isolated Pierre Robin sequence (29.8%), 22q11.2 deletion syndrome (14.6%), and van der Woude syndrome (6.7%). [13]

Lip pits may be associated with other disorders, including popliteal pterygium syndrome and orodigitofacial dysostosis.

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