Definition

A cleft is a condition characterized by a gap or splits in the mouth area, including the lips, palate, gums, or a combination of these structures. It occurs when the facial structures of a baby do not fully close during fetal development in the womb.

Cleft lip and cleft palate are the most common congenital defects. While often occurring as isolated birth defects, they can also be associated with various health issues or inherited genetic syndromes.

Parents of babies born with a cleft may experience distress, but it's important to know that cleft lip and cleft palate can be corrected. Through a series of surgeries, the function of the affected mouth area can be restored, and the appearance can be improved with minimal scarring.

Causes

Cleft lip and cleft palate occur when the tissues of the baby's face and mouth fail to fuse properly during fetal development. Typically, these tissues should fuse together by the second or third month of pregnancy. However, in babies with cleft lip and cleft palate, this fusion either does not occur or only happens partially, resulting in a gap.

While the exact causes of cleft lip and cleft palate are not fully understood, researchers believe that a combination of genetic and environmental factors plays a role. Both parents can pass on genes that contribute to clefting, either as an isolated condition or as part of a genetic syndrome that includes clefting as one of its features. Additionally, some babies may inherit genes that make them more susceptible to clefting, with environmental factors potentially triggering the condition.

Risk factor

Some risk factors that can increase the likelihood of cleft lip and/or cleft palate include:

• Family history: Parents with a family history of cleft are at a higher risk of having a baby with a cleft.
• Exposure to certain substances during pregnancy: Clefting is more likely to occur in pregnant women who smoke, consume alcohol, or take certain medications.
• Maternal diabetes: Mothers with preexisting diabetes are at a higher risk of having a baby with a cleft.
• Excessive maternal weight during pregnancy: Babies born to overweight mothers have an increased risk of clefting.
• Gender: Males are more likely to have cleft lip with or without cleft palate, while cleft palate without cleft lip is more common in females.

Symptoms

Usually, a cleft can be recognized immediately at birth. Clefts may manifest as:

• A split in the lip and/or palate on one or both sides of the face.
• A cleft lip may appear as a small notch in the lip or extend from the lip to the upper gum and palate to the base of the nose.
• A gap in the palate that may not significantly affect facial appearance.

In rare cases, a cleft may only affect the muscle (submucosa) of the soft palate located at the back of the mouth and covered by the mouth lining. This type of cleft is often unnoticed at birth and may not be diagnosed until symptoms arise. Signs and symptoms of a submucosal cleft palate include:

• Difficulty feeding
• Difficulty swallowing, with the possibility of fluids or food coming out of the nose
• Nasal speech
• Chronic ear infections

Diagnosis

In most cases, a cleft can be identified immediately at birth and typically does not require specific testing for diagnosis. However, the presence of a cleft can sometimes be detected on ultrasonography before birth.

Prenatal ultrasound, conducted before birth, utilizes sound waves to generate images of the developing fetus in the womb. By analyzing these images, doctors can identify any abnormalities in facial structures.

A cleft lip may begin to be detected on ultrasound between the first and third weeks of pregnancy, and as the fetus continues to develop, the cleft becomes more visible. However, a cleft that only affects the palate without involvement of the lip is more challenging to visualize using ultrasound.

If prenatal ultrasound indicates a cleft, doctors may offer amniocentesis, a procedure involving the extraction of a sample of amniotic fluid from the mother's womb, to investigate the possibility of genetic abnormalities in the fetus that could contribute to other birth defects. However, in many cases, the exact cause of cleft lip and palate remains unknown.

Management

The goal of cleft treatment is to enhance the child's ability to eat, speak, and hear effectively while also improving facial appearance to a more typical state. This typically involves surgical procedures to repair the cleft, as well as therapy to address any associated conditions.

Surgery

Surgery to repair cleft lip and palate is typically tailored to the child's specific condition. Following the initial operation, additional surgeries may be recommended to enhance speech ability or improve the appearance of the lip and nose.

The surgeries are usually performed in the following sequence:

• Repair of cleft lip at 3-6 months of age
• Repair of cleft palate at 12 months or earlier, if possible
• Additional surgeries between 2 years old to late adolescence

Before the surgery, the child will receive general anesthesia to ensure they are asleep and do not feel any pain during the procedure. Various surgical techniques and procedures are utilized to repair the cleft, reconstruct the affected facial area, and prevent or address associated complications.

Common surgical procedures include repairing the cleft lip, correcting the cleft palate, performing ear tube surgery, and conducting facial reconstruction surgery. Potential risks associated with surgery may include bleeding, infection, poor wound healing, keloid scarring, and temporary or permanent damage to nerves, blood vessels, or other structures.

Treatment for complications

Doctors may recommend additional treatments for complications resulting from cleft conditions. These treatments may include:

• Feeding strategies, such as using specialized bottles and nipples, to assist with feeding difficulties.
• Speech therapy to address speech challenges associated with cleft conditions and improve communication skills.
• Orthodontic adjustments, including the use of braces, to address dental issues and ensure proper alignment of teeth.
• Regular monitoring by a pediatric dentist to track dental development and maintain oral health from an early age.
• Monitoring and treatment of ear infections, which may be more common in children with cleft conditions.
• Provision of hearing aids for children with hearing impairments to improve auditory function and communication abilities.
• Therapy with psychologists to support children in coping with the emotional and psychological challenges associated with long-term treatment or other related issues.

Stress management

No one expects to have a baby with a birth defect. When the joy of having a child is followed by the stress of finding out that the baby has a cleft, it can certainly pose its psychological challenges for the family. Here are some steps that can be taken to support your child:

For parents and family:

• Don't blame yourself. Focus your energy on supporting and helping your child.
• Accept the sadness you feel, as it is normal for anyone in your situation. However, don't dwell in sadness and quickly rise to support your child.
• Seek psychological and financial support from those who can assist.

For your child:

• Focus on your child as an individual, not on their cleft.
• Highlight positive abilities that don't always involve physical appearance.
• Help your child gain confidence by allowing them to make decisions.
• Encourage confident body language, such as smiling and standing tall with their head held high.
• Maintain open communication so your child feels safe and comfortable confiding in you if they feel insecure.

Complications

Children born with clefts can encounter various challenges, depending on the type and severity of the condition. Some of these complications or obstacles include:

• Difficulty feeding: Babies with cleft lips may still breastfeed, but those with cleft palates may struggle due to difficulty forming a proper seal.
• Ear infections and hearing impairment: Children with cleft palates are at increased risk of fluid buildup in the middle ear, leading to recurrent infections and potential hearing loss.
• Dental issues: Clefts that extend into the upper gum can disrupt dental development, leading to misalignment or missing teeth.
• Speech difficulties: The palate plays a crucial role in forming sounds, so children with cleft palates may experience speech delays or sound distortion, resulting in a nasal quality to their speech.
• Social, emotional, and behavioral challenges: Differences in appearance and the prolonged treatment process can impact a child's self-esteem and social interactions, leading to emotional and behavioral issues.

Prevention

When a baby is born with a cleft, it's natural for parents to worry about the possibility of having another child with the same condition. While many cases of clefts cannot be prevented, there are steps parents can take to increase understanding and potentially reduce the risk:

• Consider genetic counseling: If there is a family history of clefts, it's essential to inform your doctor before planning another pregnancy. Your doctor can refer you to a genetic counselor who can assess your risk of having another child with a cleft and provide guidance on potential preventive measures.
• Take prenatal vitamins: If you're planning to become pregnant again, consult with your doctor about the appropriate supplements and prenatal vitamins to ensure optimal health for both you and your baby.
• Avoid smoking and alcohol: It's crucial to abstain from smoking and alcohol consumption during pregnancy, as these behaviors can significantly increase the risk of birth defects, including clefts, in newborns. 

When to see a doctor?

Cleft lip and cleft palate are typically identifiable at birth, allowing doctors to initiate treatment plans promptly. However, suppose there are signs or symptoms suggestive of a cleft in the submucosa of the palate. In that case, it's crucial to consult with a pediatrician promptly to ensure appropriate management and prevent potential complications. 

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