Cleft lip and cleft palate

[Dorothey Allen]

Cleft lip, cleft lip and palate, and isolated cleft palate, are collectively termed oral clefts (OCs). OCs are the most common congenital anomalies of the head and the neck with a total prevalence of 2.1 per 1000 live births. Both environmental and genetic factors have been implicated as causes. Prenatal maternal use of tobacco and alcohol may increase risk. Having one affected child increases risk of having a second affected child. Folate, taken just before becoming pregnant and through the 1st trimester, decreases the risk.
(See also Introduction to Congenital Craniofacial and Musculoskeletal Disorders and Overview of Congenital Craniofacial Abnormalities.)
Oral clefts are divided into 2 groups:

Syndromic (30%)
Nonsyndromic (70%)

Syndromic oral clefts are those present in patients with recognized congenital syndromes or with multiple congenital anomalies. These OCs are typically caused by chromosome abnormalities and defined monogenic syndromes.
Nonsyndromic (isolated) oral clefts are those present in patients without associated anomalies or developmental delays. A number of different gene mutations can cause the phenotype, including mutations of some of the genes that are involved with syndromic OCs, which suggests there is significant overlap between syndromic and nonsyndromic OCs.
The cleft may vary from involvement of only the soft palate to a complete fissure of the soft and hard palates, the alveolar process of the maxilla, and the lip. The mildest form is a bifid uvula. An isolated cleft lip can occur.
A cleft palate interferes with feeding and speech development and increases the risk of ear infections. Goals of treatment are to ensure normal feeding, speech, and maxillofacial growth and to avoid formation of fistulas.