Cleft lip and cleft palate from the genetic aspect

Orofacial clefts are one of the most common craniofacial malformations in newborns. They can occur as part of a distinct genetic syndrome, multiple congenital anomaly syndrome or as an isolated malformation. Aff ected individuals initially face feeding diffi culties, and speech, hearing and dental problems later in life. Patients can experience lifelong psychosocial eff ects from these malformations. The best treatment success is achieved by multidisciplinary team approach. Identifi cation of many genes and loci that contribute to the etiology of these disorders has been the subject of numerous studies using multiple genetic approaches. Signifi cant progress has been made recently due to advances in the sequencing and genotyping technologies, primarily through the use of whole exome sequencing and genome-wide association studies.
Keywords: cleft lip; cleft palate; genetics
Category: Review
Volume: Vol. 59, No 2, april - june 2015
Authors: Huljev Frković S.
Reference work: Paediatr Croat. 2015;59:95-8

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