Cleft lip and cleft palate are congenital deformities that result in the palate or the lip or both not coming together to fuse in the middle during the fetal formation of facial structures. This occurs early in gestation, as the structures begin to fuse at around 5 weeks. The formation of the clefts can lead to multiple other problems, including difficulties with speech, eating and deformed dentition. According to the Mayo Clinic, either the mother or the father can pass on the genes that cause the clefts.
IRF6 Gene
An error in the IRF6 gene causes a syndrome called van der Woude syndrome. According to the National Institute of Dental and Craniofacial Research, children with this syndrome have a cleft lip, palate or both, in addition to mucous cysts on the lower lip and poorly developed teeth. People with an IRF6 gene mutation have a three-fold increased risk of cleft lip or palate as compared to people without that mutation.
PHF8 Gene
A mutation in the PHF8 gene causes a condition called Siderius X-linked mental retardation. According to the "American Journal of Medical Genetics," this is a syndrome that, in addition to cleft lip and palate, causes facial malformation and mild mental retardation.
Stickler's Syndrome
Stickler's syndrome can be caused by any one of several different genetic mutations, but the most common is in the Col2a1 gene. According to the "Journal of Medical Genetics," Stickler's syndrome consists of collagen disorders, cleft lip and palate, facial abnormalities, eye problems, hearing loss and joint problems.
Patau Syndrome
Patau syndrome is caused by a condition called trisomy 13, which means the person has three copies of chromosome 13 instead of the usual two. According to the journal "Lancet," people with Patau syndrome have heart and kidney defects in addition to possible cleft lip and palate. The risk of having a child with Patau syndrome increases with maternal age.
References
- Mayo Clinic: Cleft Lip and Cleft Palate
- National Institute of Dental and Craniofacial Research: Cleft Lip and Palate: Van der Woude Syndrome
- "American Journal of Medical Genetics"; X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3; Liesbeth E. Siderius; June 1999
- "The Lancet"; Multiple Congenital Anomalies Caused by an Extra Autosome; Klaus Patau; April 1960
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