Three of them—T-box transcription factor-22 (TBX22), poliovirus receptor-like-1 (PVRL1), and interferon regulatory factor-6 (IRF6)—are responsible for causing X-linked cleft palate, cleft lip/palate–ectodermal dysplasia syndrome, and Van der Woude and popliteal pterygium syndromes, respectively; they are also …

Nonsyndromic familial NSCL/P represents almost half of facial malformations; the cases can be sporadic or inherited as an autosomal dominant trait. On the other hand, >400 syndromes, including numerous chromosomal anomalies, may include a facial cleft as one of the manifestations.

The genes, associated for the first time with cleft lip and palate, encode proteins that work together in a network, providing important insight into the biological basis of one of the most common physical malformations.

Children with a cleft lip or a cleft palate, depending on the size of the openings, may have problems eating and breathing. As they grow older, they may also have speech and language delays. Children with cleft lip or palate are also more likely to have ear infections, hearing loss, and problems with their teeth.

What can you do to help prevent cleft lip and cleft palate in your baby?

1. Take folic acid.
2. Don’t smoke or drink alcohol.
3. Get a preconception checkup.
4. Get to a healthy weight before pregnancy and talk to your provider about gaining a healthy amount of weight during pregnancy.

Cleft lip and palate is a common birth defect. It occurs together in 1 of every 1,000 babies, somewhat more in males than females. About 20% have the cleft lip only, 30% have cleft palate only, and 50% of children with a cleft lip will also have a cleft palate.

Babies born with a cleft lip may also have a cleft palate, where the roof of the mouth is split. These birth defects can be repaired surgically. But unless that is done, it can result in significant disabilities and even death.

Children born with a cleft palate commonly experience middle ear problems and associated hearing loss. This is a problem for children with a cleft palate because the muscles of the palate are important in allowing air into the middle ear, as well as allowing drainage of secretions from the middle ear.

A child who has had a cleft lip repair should be positioned on their side or back to keep them from rubbing their face in the bed. A child with only a cleft palate repair may sleep on their stomach. It is important to keep the stitches clean and without crusting.

In cleft palate the muscles that open the Eustachian tube (tensor palatini and levator palatini) have abnormal connections thereby making the tube opening either difficult or impossible. This will lead to secretory otitis media in 95% of cases, since the middle ear will not be aerated.

No one knows exactly what causes clefts, but most believe they are caused by one or more of three main factors: (1) an inherited characteristic (gene) from one or both parents; (2) poor early pregnancy health or exposure to toxins such as alcohol or cocaine; and/or (3) genetic syndromes.

Cleft of earlobe (left), earlobe duplication (middle), and skin tag on the back of the earlobe (right). Congenital earlobe deformities come in a variety of shapes, including earlobes with clefts, duplicate earlobes, and earlobes with skin tags.

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