Cleft lip and palate are birth defects of the mouth and lip, also known as oral-facial clefts.
Cleft lip is an abnormality in which the lip does not completely form during fetal development. The degree of the cleft lip can vary greatly, from mild (notching of the lip) to severe (large opening from the lip up through the nose), in which case the cleft can be very noticeable.
Cleft palate occurs when the roof of the mouth does not completely close during fetal development, leaving an opening that can extend into the nasal cavity. The cleft may involve either side of the palate. It can extend from the front of the mouth (hard palate) to the throat (soft palate). Often the cleft will also include the lip. Cleft palate is not as noticeable as cleft lip because it is inside the mouth. It may be the only abnormality in the child, or it may be associated with cleft lip or other syndromes. In many cases, other family members have also had a cleft palate at birth.
The different types of cleft defects are categorized according to the location and how much of the lip is involved:
The cause of cleft lip and palate is not completely understood, though we know that a combination of genetic and environmental factors contribute to cleft lip and palate. If parents without clefts have a baby with a cleft, the chance they will have another baby with a cleft ranges from 2 percent to 8 percent, which suggests a genetic factor. If clefts run in your family, genetic consultation is recommended.
In addition, there are several syndromes commonly associated with cleft lip and palate:
Cleft lip and palate is generally diagnosed after birth, but in some cases, the diagnosis can be made prenatally. The Cleft Lip and Palate Program works closely with CHOP’s Center for Fetal Diagnosis and Treatment to provide early and accurate diagnosis, allowing our team to assess the best treatment options for your child’s unique situation.
Early diagnosis and treatment is important to achieve optimal outcomes and correction of cleft lip and palate. The discovery of cleft lip and cleft palate while a baby is still in utero allows both the family and the healthcare team to prepare, anticipate potential challenges and assemble appropriate resources to optimize the outcome for the newborn.
Cleft abnormalities are most often prenatally diagnosed around or after 30 weeks gestation. At this stage of fetal development, the lip and palate have normally fused, so a failure to fuse may be evident in advanced prenatal imaging tests after this time.
In most cases, babies born with cleft lip and palate will be transferred to Children’s Hospital after birth, where they will undergo comprehensive imaging and evaluation to determine the most appropriate, individualized course of treatment. We work closely with the Neonatal Craniofacial Program to manage the care of newborns with cleft lip and palate.
If orofacial clefting is suspected on a routine ultrasound study, expectant mothers may be referred to the Center for Fetal Diagnosis and Treatment for a comprehensive, full-day prenatal evaluation. The evaluation includes three diagnostic studies:
A detailed review of family, medical and pregnancy history, performed by a board-certified genetic counselor, completes the evaluation process. This information is important in assessing recurrence risks for future pregnancies.
The results of the evaluation are reviewed and families are counseled by a multidisciplinary team that includes maternal-fetal medicine specialists (MFM), reproductive geneticists, plastic and reconstructive surgeons and nurse coordinators. Individually tailored prenatal and postnatal management plans are developed in partnership with referring physicians.
If prenatal evaluation suggests a potential underlying syndrome, genetic testing may be performed through amniocentesis. While the diagnosis of an isolated cleft does not necessarily alter delivery planning, babies with multiple prenatally diagnosed birth defects might benefit from delivery in a specialized center such as the Hospital’s Garbose Family Special Delivery Unit (SDU).
Diagnosis of a birth defect like cleft lip and palate is a challenging time for any family. Together with other specialists from throughout the Hospital, the Cleft Lip and Palate Program and the Center for Fetal Diagnosis and Treatment provide a wide range of resources to support families throughout pregnancy, delivery, and treatment after birth.