As a parent, the wish for a healthy and thriving child is universal. However, there is always a possibility of complications. Cleft lip and cleft palate are serious issues that many parents encounter.
Based on a study published in 2020, cleft lip and palate occur in about 1 in 600 to 800 live births, while isolated cleft palate happens in roughly 1 in 2000 live births.
From causes to symptoms to diagnosis, let’s take a closer look at cleft lip and palate.
What Are Cleft Lip and Cleft Palate?
Cleft lip and palate are the most common birth defects affecting the mouth and face. They can happen alone or together and may also occur alongside other birth abnormalities, especially congenital heart diseases.
Cleft lip happens when certain parts of the baby’s face don’t come together properly during development, causing a gap in the lip, alveolus (gum area), and nasal floor. Incomplete clefts don’t reach the nasal floor, while complete clefts mean there’s no connection between the alar base and the medial labial element.
Cleft palate occurs when the palatal shelves in the baby’s mouth don’t fuse correctly, leading to a gap in the hard and/or soft palates. These clefts develop during the fourth stage of development, and the specific areas where facial processes didn’t fuse properly and the timing of these developmental interferences influence where they appear.
Cleft Lip and Palate Causes
The causes of cleft lip and palate are complex and believed to result from a mix of genetic factors and interactions with the environment.
These factors can be grouped as follows:
While the idea that cleft lip and palate run in families has been recognized for a long time, formal genetic studies began when it was noticed that relatives of individuals with clefts had a higher likelihood of having them too.
Studies involving twins and family members have shown a strong genetic link, with first-degree relatives having a much higher risk of clefts than those without a family history. This suggests that while genetics play a significant role, other factors also contribute to the condition.
Smoking and Alcohol Use
Smoking is linked to the development of orofacial clefts (cleft lip and palate). Maternal smoking increases the risk by up to 20%, with a specific odds-ratio of 1.3 for cleft lip and palate. While alcohol is a known teratogen, its association with clefting is not consistently supported.
Some evidence suggests a connection between clefting and certain genetic variations related to alcohol metabolism. Additionally, a recent study found that a combination of specific genetic variants and heavy maternal alcohol use further raises the risk of orofacial clefts.
If a woman has diabetes before getting pregnant, there’s a higher chance her child could be born with a cleft lip, with or without a cleft palate. Research indicates that mothers with diabetes were 1.34 times more likely than those without diabetes to have a baby with cleft lip or palate
Also, using specific medications for epilepsy, like topiramate or valproic acid, during the first three months of pregnancy increases the risk of having a baby with a cleft lip, with or without a cleft palate, compared to women who don’t take these medicines.
Cleft Lip and Cleft Palate Symptoms
Cleft lip and cleft palate are congenital conditions, meaning they are present at birth. The symptoms can vary depending on the severity and the specific type of cleft.
Here are common symptoms associated with cleft lip and cleft palate:
- Visible gap or opening in the upper lip, which can range from a small notch to a larger opening that extends into the nose.
- May affect one or both sides of the upper lip.
- Nasal distortion or flattening on the affected side.
- Opening or gap in the roof of the mouth, which may involve the hard palate (front part) and/or the soft palate (back part).
- Difficulty with feeding, as the baby may have trouble creating suction.
- Increased risk of ear infections due to improper drainage of fluids from the middle ear.
- Speech difficulties, such as nasal speech, articulation issues, and difficulty pronouncing certain sounds.
- Dental problems, including misalignment and missing or malformed teeth.
Other associated conditions
Speech Difficulties: People with cleft lip and palate may face challenges in speaking because of muscle issues in the roof of the mouth. They often experience delays in making certain sounds, like “p,” “b,” “t,” “d,” “k,” and “g.” Abnormal nasal sounds and trouble with clear speech are common in individuals with cleft lip and palate.
Ear Infections: Due to problems with a muscle that opens the ear tube, individuals with cleft lip and palate may get ear infections. If these infections happen frequently, they could lead to hearing loss. The risk is higher when there is an additional issue called submucous cleft palate.
Feeding Problems: Babies born with a cleft palate might find it challenging to suck through a regular nipple because of the gap in the roof of the mouth. Feeding involves both the baby’s lip movements and the pressure build-up in the mouth, and a special nipple is often needed. It may take a few days for both the baby and parents to get used to using the special nipple, but most babies with cleft palate can learn to feed properly with it.
It’s important to note that the severity of symptoms can vary, and some cases may be more noticeable than others.
Diagnosis and Medical Evaluation
During a pregnancy ultrasound, most clefts in the lip can be spotted because they cause visible changes in the baby’s face. However, finding an isolated cleft palate (without a cleft lip) is tricky, and it’s only identified very few of cases during prenatal ultrasounds.
If a cleft isn’t seen on an ultrasound, doctors can check the baby’s mouth, nose, and palate after birth for a diagnosis. Typically, a cleft lip is noticed around the 20-week ultrasound (anatomy scan), which happens between 18 and 22 weeks of pregnancy. In some cases, it might be seen as early as 12 weeks. Detecting a cleft palate on ultrasound is more challenging compared to finding a cleft lip.
Cleft Lip and Palate Treatment
The treatment for cleft lip and cleft palate typically involves a combination of surgical intervention, medical care, and ongoing support.
Treating cleft lip
The primary treatment for cleft lip is surgical repair, which is usually performed when the baby is a few months old. The goal of the surgery is to close the gap in the lip, restore a more natural appearance, and ensure proper function.
A team of healthcare professionals, including plastic surgeons, paediatricians, nurses, and other specialists, may be involved in caring for a child with a cleft lip. This multidisciplinary approach ensures comprehensive and coordinated care.
Treating cleft palate
Unlike the artistic focus of fixing cleft lips, repairing a cleft palate is mainly about making sure everything works well.
A team of specialists, including a plastic surgeon, speech therapist, and orthodontist, works together to improve speech quality and reduce any problems caused by the cleft. Surgeries may involve techniques to repair both the soft and hard parts of the palate. Some use procedures like veloplasty or palatoplasty to reposition muscles.
In some cases, a method called maxillary distraction is used to correct severe issues. Team-based care, led by a plastic surgeon, is crucial, with easy access to specialists in paediatrics, ear, nose, and throat (ENT), and dental care. Techniques like nasoalveolar moulding (NAM) can help improve outcomes before surgery, providing benefits to patients and caregivers.
Living with Cleft Lip and Palate
Living with cleft lip and palate can have both physical and emotional challenges. Beyond the physical aspects, individuals with cleft lip and palate may encounter social and emotional hurdles, including self-esteem concerns related to their appearance.
Support groups and counselling can play a crucial role in helping both individuals and their families navigate these challenges, providing a sense of community and understanding.
If your baby has cleft lip and palate, it may evoke worry. However, it’s important to know that, in most instances, your baby is healthy.
Surgery is often effective in improving the appearance of the clefts. Treatment for children with cleft lip and cleft palate focuses on correcting the lip and mouth to ensure proper functionality. Additionally, dental procedures, orthodontic care, and speech therapy may be part of the comprehensive treatment plan.
If your child is diagnosed with a cleft lip or palate, speak with a doctor to understand the treatment plan and anticipated outcomes.