Clinical features: About 10% of patients with a cleft lip or cleft lip and palate have other congenital anomalies. Therefore, a detailed physical examination is important to exclude the numerous syndromes which include facial clefting. Some of these are inherited as single gene disorders. When considering isolated cleft deformities of all races grouped together, 50% are cleft lip and palate, 30-35% are cleft palate only, and 15-20% are cleft lip only. In the mildest form the lip alone is unilaterally cleft, whereas in the most severe form the lip and palate are bilaterally cleft.
Incidence: The incidence of cleft lip and palate is 1 in 1,000 live Caucasian births; cleft palate alone is present in 1 in 500 live births.
Inheritance : Multifactorial inheritance. Empiric recurrence risk and offspring risk figures are available for isolated cleft lip and palate and isolated cleft palate, and take into account the severity of the malformation. If the clefting is associated with a known syndrome, the recurrence risk will depend on the genetics of the syndrome.
Prenatal diagnosis: Mid-trimester detailed fetal ultrasonography is possible but may be difficult.
If you would like to access specialist information on cleft lip and palate please go to:- Omim - Cleft lip and palate
Back to genetic conditions index
