Orofacial clefts are birth defects where the upper lip or the roof of the mouth, the palate, does not form completely during an unborn baby’s development. Occurring in approximately one in every 1,000 to 1,500 live births worldwide, they represent one of the more common congenital anomalies. While the appearance of a cleft can be concerning, effective treatments are available to help children lead healthy lives.
Types of Orofacial Clefts
Orofacial clefts are classified based on the specific structures involved and the extent of the separation. The primary types are cleft lip, cleft palate, and a combination of both. These separations can be unilateral, affecting one side of the face, or bilateral, affecting both sides.
A cleft lip is a physical separation of the two sides of the upper lip, appearing as a narrow opening or gap. This separation can be a small slit or a large opening that extends from the lip up into the nose. Clefts of the lip can be incomplete, meaning they do not extend into the nostril, or complete, where the gap continues into the nose.
A cleft palate is an opening in the roof of the mouth that occurs when the tissue forming the palate fails to join during fetal development. This condition can involve the hard palate, the bony front portion of the roof of the mouth, or the soft palate, the muscular tissue at the back. Some infants may have an opening in both the front and back parts of the palate, while for others, only a portion is open. It is possible for a cleft palate to exist without a visible cleft in the lip.
Causes and Risk Factors
The development of orofacial clefts is often multifactorial, with most cases resulting from a complex interplay between genetic predispositions and environmental influences. In many instances, a single, definitive cause cannot be identified. Researchers believe that these factors can disrupt the intricate process of facial fusion that occurs between the sixth and eleventh week of pregnancy.
Genetic factors play a significant role, as the risk of having a baby with a cleft increases if a sibling, parent, or another close relative has the condition. Specific gene variants inherited from one or both parents can contribute to the development of a cleft. Sometimes, a cleft is a feature of a broader genetic syndrome, with more than 400 syndromes known to be associated with clefts. Approximately 30 percent of cleft defects are associated with a recognized genetic syndrome.
Environmental exposures and maternal health during pregnancy also contribute to the risk. Factors such as smoking and alcohol use by the mother can increase the likelihood of a cleft. Certain health conditions, like pre-existing diabetes, or the use of specific medications, including some drugs for treating epilepsy, have been identified as increasing the risk. Folate deficiency before and during the first trimester is a known risk factor, underscoring the importance of prenatal folate supplementation.
Diagnosis and Initial Management
The detection of orofacial clefts can occur at different stages, either before or immediately after birth. A routine prenatal ultrasound can often identify a cleft lip because of the visible changes to the fetal face. However, an isolated cleft palate is much more difficult to see on an ultrasound and is only detected prenatally in a small percentage of cases.
Once a cleft is diagnosed, the immediate focus shifts to ensuring the infant can feed properly. The opening in the palate or lip can prevent a baby from creating the suction needed for effective nursing or bottle-feeding. This can lead to food and liquids passing from the mouth back through the nose, creating feeding challenges.
Special equipment is often necessary to help infants with clefts feed successfully. This can include bottles with specially designed nipples or other assistive feeding devices that help manage the flow of milk and prevent it from entering the nasal cavity. A lactation consultant or a feeding specialist is often part of the care team from the very beginning to provide support and ensure the baby receives adequate nutrition and gains weight appropriately before any surgical interventions are considered.
Comprehensive Treatment Approaches
Treating an orofacial cleft is a long-term process that requires a series of coordinated interventions, often extending from infancy into early adulthood. The primary treatment is surgical repair to close the separation in the lip and palate, which is timed to support the child’s development.
Surgical repair follows a general timeline based on the type of cleft. Surgery to repair a cleft lip is performed within the first few months of life, often between three and six months of age. The repair of a cleft palate is done later, between the ages of 9 and 18 months. This timing helps to close the palate before the child develops significant speech patterns, and many children may require additional surgeries as they grow to address related issues.
Effective management relies on a multidisciplinary team of specialists, often called a cleft or craniofacial team. This team works together to create a comprehensive care plan tailored to the child’s specific needs. This team includes:
- A plastic surgeon for the primary repairs
- An oral surgeon for jaw alignment
- An orthodontist to manage tooth positioning
- Speech-language pathologists to address speech challenges
- Audiologists to manage hearing issues
- Pediatric dentists for specialized dental care
- Pediatricians for overall health management
Associated Health Conditions
Children with orofacial clefts often face related health issues that require ongoing monitoring and specialized care beyond the initial surgical repairs. These conditions can affect hearing, speech, and dental health, and are a direct result of the structural differences caused by the cleft.
Ear infections and hearing problems are common in children with a cleft palate. The cleft can affect the function of the Eustachian tubes, which connect the middle ear to the back of the throat and regulate air pressure. This can lead to fluid buildup in the middle ear, increasing the frequency of infections and potentially causing hearing loss. To manage this, small tubes may be surgically placed in the eardrums to help with fluid drainage.
Speech and language development can also be significantly impacted. An unrepaired or improperly healed cleft palate can make it difficult for a child to produce certain sounds, as air may escape through the nose during speech, resulting in a nasal-sounding voice. A speech-language pathologist works with the child to develop clear speech, often starting before palate surgery and continuing for years afterward.
Dental problems are another frequent challenge for children with clefts. The cleft can affect the development and positioning of the teeth in the area of the gap. Common issues include missing, extra, malformed, or misaligned teeth, as well as an increased risk for cavities. A pediatric dentist and an orthodontist will monitor dental development closely and provide necessary treatments, which may include braces or other dental appliances to align the teeth and jaw.