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Cleft lip with or without cleft palate

Orpha number ORPHA1991
Synonym(s) Tessier cleft number 1,2
Prevalence 6-9 / 10 000
Inheritance
  • Multigenic/multifactorial
Age of onset Neonatal/infancy
ICD-10
  • Q36.0
  • Q36.1
  • Q36.9
  • Q37.0
  • Q37.1
  • Q37.2
  • Q37.3
  • Q37.4
  • Q37.5
  • Q37.8
  • Q37.9
OMIM
UMLS
  • C0008924
MeSH -
MedDRA -
SNOMED CT
  • 80281008

Summary

Cleft lips (CL) are associated with cleft palate (CLP) in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum. Males are affected more frequently than females (M/F ratio=1.6). There are about 200 syndromes in which babies have some form of CLP along with a wide variety of other birth defects. Up to 13% of babies with CLP have other birth defects. In fetal development, the lip usually closes by 5 to 6 weeks after conception, and the palate by 10 weeks. The lip or the lip and palate together fail to close in approximately 1 in every 1,000 babies born, with different frequencies according to countries: In Europe, the average recorded prevalence of cleft lip with or without cleft palate is 9,12/10,000 births (including livebirths, stillbirths, and terminations of pregnancy following prenatal diagnosis) If parents without either form of oral-facial clefts have a child with a cleft, and causes, like identified syndromes or environmental exposures, have been ruled out, the recurrence risk in a subsequent baby is 2 to 8 percent. A second baby is at risk for mainly for the same type of cleft as that affected his or her sibling. If either parent has an oral-facial cleft, but no affected children, the risk of the same type of cleft in any pregnancy is about 4 to 6 percent. If more than one of the parents and/or children are affected, the risk for future offspring is greater. CLP can be corrected by surgery. The timing and type of surgery depend upon a number of factors, including the preference of the surgeon, the health of the baby and the nature of the cleft. There may be problems with feeding, ear disease and speech development, as well as dental problems. Each child with CLP requires an individualized treatment plan by a team of specialists so that all aspects of treatment can be coordinated. When cleft lip/palate extends into the upper gums (which contain the teeth), dental problems occur. Some primary and permanent teeth may be missing, abnormally shaped, or misplaced. While little is known about how to prevent oral-facial clefts, studies suggest that taking multivitamins containing folic acid before conception and during the first two months of pregnancy may help prevent CLP. Other studies have shown that fetuses with certain predisposing genes may be at increased risk for isolated cleft if their mothers smoke during pregnancy. Families with a history of CLP, or any other condition of which clefting is a part, should receive genetic counselling with discussion of the recurrence risk. Prenatal diagnosis of a CLP is possible from 14 weeks of gestation, and should lead to searching for associated malformations, and proposing a fetal karyotype to the parents.

Expert reviewer(s)

  • Dr Elisabeth ROBERT-GNANSIA

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