Genetics Northern California

Cleft Lip/Cleft Palate

A cleft lip and a cleft palate are birth defects that occur very early in pregnancy. The word cleft means a "split" or a "separation". As a baby's face develops in the womb, a space remains between the nose and the mouth. During normal development, the left and right sides of the upper lip and palate (the roof of the mouth) come together and fuse. If this does not fully occur, the child will be born with a cleft lip and/or a cleft palate. A cleft, therefore, is not something that forms; rather, it is something that does not form. Everyone begins with a cleft in early prenatal development. For about every 1 in 700 infants, however, the cleft failed to fuse. Children may be born with either a unilateral (one-sided) or a bilateral (two-sided) cleft lip. A cleft in the palate can be partial (front part only) or complete (involving the entire roof of the mouth).

The extent to which a child will be affected by a cleft lip or a cleft palate depends upon whether the cleft is isolated or part of a genetic syndrome. If the cleft is part of a syndrome, there may be additional clinical features that require medical attention. These can range from mild to severe but a comprehensive evaluation by a specialist is necessary. If, however, the cleft has occurred in the absence of other syndrome-type symptoms, the affected child may have minimal difficulties or problems. Sometimes children with clefts have trouble feeding. Special bottles or careful positioning of the baby are helpful modifications. If the cleft affects only the lip, the teeth are unlikely to be affected. If, however, the cleft affects the gums where the teeth grow, the child will need to be seen by dental specialists. Speech problems occur according to the degree of the cleft. Children with a severe cleft palate often require the help of a speech pathologist and/or additional operations to improve their speech capacities. Children with only a cleft lip, on the other hand, may not experience difficulties with speech. In addition, children with cleft lip or palate are at risk for middle ear disease and other hearing problems. Fluid tends to build up in the ear as a result of an incomplete opening of the eustachian tube. These hearing difficulties in turn affect speech and learning.

The causes of the incomplete fusion are not fully understood. Genetic inheritance plays a role in some cases; sometimes clefts run in families. Other times, cleft lip and cleft palate may be part of a larger syndrome. In some cases, clefts may not be genetic at all and may be the result of some unknown prenatal environmental cause. The majority, however, appear to be the result of a mixture of genetic and environmental factors, also called multifactorial inheritance.

The diagnosis of cleft lip and/or cleft palate is generally made in the first moments of life. Parents are often quite shocked by the facial difference in their baby and it can be a difficult time. Because it is a very common finding, medical providers are quite familiar with assisting families with coping with this. Occasionally, however, when only the posterior portion of the palate is involved, the cleft may become apparent only after noting difficulty with either breast or bottle feeding, prompting a more thorough oral exam. Generally, however, clefting is quite apparent and medical providers will intervene with the family at that time. In addition, cleft lip may be seen on prenatal ultrasound sometimes, and parents will learn of these results and have that time period to adjust to the diagnosis and learn about the condition and general treatment plan.

Assistance in learning about clefting and the accompanying treatment plan is readily available. The craniofacial team is available during the initial newborn period, including with contact during the hospital stay, and prior, during the prenatal period if a cleft is anticipated. The team assists in designing the treatment plan and is readily available to the family.

A cleft lip can be repaired by a surgeon during the first few months of life. Cleft palate surgery usually occurs some months later. The exact timing of these repairs depends upon the health of the individual child as well as on the recommendations of a specialist. Once the initial surgeries are performed, a number of revisions may be carried out (if necessary) throughout childhood and adolescence.
Given the number of possible complications a child with a cleft may experience, it is important that he or she be evaluated early by an expert cleft team. This team usually includes a medical geneticist, a plastic surgeon, a speech pathologist, an ear, nose, and throat doctor, a dental specialist, a nurse, social worker and a nutritionist (among others). The coordinated care of these providers will help ensure all features of a particular child’s cleft are evaluated and treated accordingly.