The speech-language pathologist's role in understanding the genetics of Van der Woude syndrome.
A family report of three generations of Van der Woude syndrome (cleft lip or palate and lip pits) is presented to show that the speech-language pathologist may play an important role in identifying patients with this defect. Understanding the genetic basis of this syndrome and documentation of family history through pedigree analysis can be instrumental in identifying other family members potentially affected with speech disorders. Because the diagnosis of Van der Woude syndrome was made in one member of the family in the pedigree, three other family members who had never received previous diagnosis or treatment of their speech disorders were identified. Other family members were referred for genetic counseling. The concepts of autosomal dominant transmission, variable expression, incomplete penetrance, and the pedigree technique for recording family history are also presented.
D002675:Child, Preschool; D002971:Cleft Lip / Q000175:diagnosis / Q000235:genetics*; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D005817:Genetic Counseling; D006801:Humans; D010375:Pedigree; D013066:Speech-Language Pathology; D013577:Syndrome