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Cleft Lip and Palate

Cleft Lip And Palate

Online Consultation

Iqra Mazhar

Overview

A cleft is a split or gap in the upper lip and/or the roof of the mouth (palate). These birth defects are commonly termed &lsquo;orofacial clefts&rsquo;.&nbsp;Cleft lip and palate are birth defects that develop early in pregnancy, while the fetus is developing within the womb. 
&nbsp;

Cleft lip and palate is the most prevalent facial birth defect in the UK, affecting approximately 1 in every 700 babies<a href="#accordion">[1]</a>. Whereas, the United States reports a prevalence of 1 in 1,563 cases per birth for both cleft lip and palate<a href="#accordion">[2]</a>. Cleft palate alone had a prevalence of 1 in 1,687 cases per birth<a href="#accordion">[2]</a>. Moreover, the estimated national prevalence for orofacial clefts was 6.4% between 2010-2014<a href="#accordion">[2]</a>. 
Children can be born with cleft lip, cleft palate, or both. A cleft lip can affect either one or both sides of the lip. It might be as minor as a notch, or as large as a gap that touches the nose. On the other hand, a cleft palate can be as simple as an opening in the back of the mouth or as complex as a split in the palate that extends all the way toward the front of the mouth. It is frequently obscured by the lining of the mouth&#39;s roof.

The lips develop between the 4th and 7th week of pregnancy. During pregnancy, as the baby develops, the body tissue and cells from each side of the head begin to grow toward the center. As a result, the tissue joins together, forming facial features, such as the lips and mouth. An incomplete fusion of the tissues that make up the lip can result in an opening in the lip, also called a cleft lip. Whereas, a cleft palate results from an incomplete fusion of the tissues that make up the roof of the mouth. 
&nbsp;

Orofacial clefts are classified into two types: cleft lip and cleft palate. These two clefts can occur simultaneously (named cleft lip and palate), or separately. 
&nbsp;

<h5>Cleft Lip</h5>

A cleft lip was once referred to as a &quot;harelip&quot;, but medical professionals no longer use this derogatory word.

Cleft lips are most commonly found on one side of the upper lip but can occur on both sides. However, not all cleft lips are the same. Cleft lips may be extremely shallow and little, or they can be bigger and reach all the way to the top of the nose. Cleft lips can exist with and without a cleft palate. 
&nbsp;

<h5>Cleft Palate</h5>

The palate, or roof of the mouth, develops between the sixth and ninth weeks of pregnancy and is divided into two parts: the hard palate and the soft palate. A cleft palate, like a cleft lip, occurs when the mouth tissues do not entirely fuse. Cleft palates can also have a variety of looks.

A cleft palate can extend across both the hard and soft palates, and run throughout the mouth&#39;s roof. It is sometimes hidden by the lining of the mouth&#39;s roof. Similarly, many people with cleft palates have an aperture that falls between these two extremes. 
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Signs and Symptoms

A split (cleft) in the lip or palate is usually noticeable from birth. Cleft lip and palate can manifest as:

<ul>
	<li>A split in the lip and palate that impairs one or both sides of the face</li>
	<li>A lip split that appears as a little notch in the lip or that runs from the lip through the upper mouth and palate into the bottom of the nose</li>
	<li>A split in the roof of the mouth 
	&nbsp;</li>
</ul>

A cleft arises less frequently in the muscles of the soft palate (submucous cleft palate), which are located at the back of the mouth and are protected by the mouth lining. This form of cleft generally goes unreported at birth and might not be diagnosed until symptoms appear later. 
&nbsp;

A cleft lip and cleft palate can result in a number of problems. These often appear in the first few months following birth. They include:

<ul>
	<li>Feeding Difficulties - A baby with a cleft lip and palate is unable to form a good seal with their mouth. Thus, they have problems breastfeeding and feeding from a bottle</li>
	<li>Difficulty Swallowing, with the possibility of liquids or foods coming out of the nose</li>
	<li>Chronic Ear Infections - Babies with a cleft palate are prone to ear infections and a build-up of fluid within the ear. All this can cause hearing problems</li>
	<li>Dental Problems - Teeth development is affected and these children are at a higher risk of tooth decay</li>
	<li>Speech Problems - An unrepaired cleft palate can lead to speech problems, causing a nasal-sounding speech in the child as he/she gets older 
	&nbsp;</li>
</ul>

Surgery, coupled with speech and language therapy, leads to an improvement in these problems. 
&nbsp;

Causes

Whenever tissue in the baby&#39;s face and mouth fails to fuse properly, cleft lip and palate develop. During the second and third months of pregnancy, the tissues which form the lip and palate generally fuse. However, in babies with cleft lip and palate, the fusion rarely occurs or takes place just partially, leaving a gap (cleft). 
&nbsp;

According to researchers, most cases of cleft lip and cleft palate are caused by a combination of hereditary and environmental factors. However, the exact cause remains unclear.

Genes can be passed down from either mother or father, either alone or as part of a genetic condition that includes a cleft lip or cleft palate as one of its symptoms. In certain circumstances, babies inherit a gene that makes them more prone to develop a cleft, and then an environmental trigger leads to its development. 
&nbsp;

Diagnosis

Cleft lips cause changes to the fetus&rsquo;s facial features which are easily detected on prenatal ultrasonography. However, isolated cleft palates are difficult to discern and are detected in only 7% of cases during prenatal ultrasounds<a href="#accordion">[3]</a>.

If a prenatal ultrasound is unable to detect the birth defect, a physical inspection of the mouth, nose, and palate can help identify a cleft lip or cleft palate after birth.

In some situations, the doctor may advise an amniocentesis (a prenatal test used to diagnose genetic diseases) to rule out other genetic illnesses. Amniocentesis is the removal of amniotic fluid from the amniotic sac. It aids in the diagnosis of various congenital diseases.

The majority of healthcare practitioners identify a cleft lip during the 20-week ultrasound (anatomy scan), which happens between 18 and 22 weeks of pregnancy. It can be detected as early as 12 weeks. A cleft palate is generally difficult to detect on an ultrasound. 
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Treatment

The goal of cleft lip and cleft palate treatment is to restore the child&#39;s ability to eat, communicate, and hear, as well as to attain a normal facial look. Babies with cleft lip and cleft palate are frequently cared for by a multidisciplinary team of doctors and specialists, including:

<ul>
	<li>Plastic surgeons</li>
	<li>Oral surgeons</li>
	<li>Pediatricians</li>
	<li>Ear, nose, and throat doctors (ENTs), also called otorhinolaryngologists</li>
	<li>Pediatric dentists</li>
	<li>Nurses</li>
	<li>Orthodontists</li>
	<li>Speech therapists</li>
	<li>Auditory or hearing specialists</li>
	<li>Genetic counselors</li>
	<li>Psychologists</li>
	<li>Social workers 
	&nbsp;</li>
</ul>

Surgery to fix the defect is followed by therapy to improve any associated problems. 
&nbsp;

<h5>Surgery</h5>

The surgery to fix the cleft lip and palate is tailored to the child&#39;s specific situation. During the first cleft repair, the doctor might advise follow-up procedures to enhance the child&rsquo;s speech or the appearance of their lip and nose. 
&nbsp;

Typically, surgeries are conducted in the following order:

<ul>
	<li>Cleft lip and palate repair &mdash; within the first 3 to 6 months of life</li>
	<li>Cleft lip repair &mdash; by the age of twelve months or earlier if appropriate</li>
	<li>Follow-up procedures &mdash; between the ages of 2 and late adolescence 
	&nbsp;</li>
</ul>

To correct cleft lip and palate, reconstruct the afflicted areas, and prevent or manage related problems, a variety of surgical techniques and procedures are performed.

Procedures, in general, may include:

<ul>
	<li>Cleft Lip Repair</li>
</ul>

To repair the lip cleft, the doctor makes incisions on both sides of the cleft and generates tissue flaps. The flaps, along with the lip muscles, are then sewn together. The repair should restore the lip&#39;s look, structure, and function. If necessary, the initial nasal repair is frequently performed simultaneously. 
&nbsp;

<ul>
	<li>Cleft Palate Repair</li>
</ul>

Depending on your child&#39;s situation, several operations may be utilized to repair the separation and reconstruct the roof of the mouth (hard and soft palate). Incisions are made on both sides of the cleft, and tissue and muscles are repositioned. The repair is then sewn up. 
&nbsp;

<ul>
	<li>Ear Tube Surgery</li>
</ul>

Ear tubes may be implanted in children with cleft palate to minimize the likelihood of chronic ear fluid, which can lead to hearing loss. Ear tube surgery entails inserting tiny bobbin-shaped tubes into the eardrum to produce an opening for the drainage of any fluid buildup. 
&nbsp;

<ul>
	<li>Surgery To Reconstruct The Appearance</li>
</ul>

Additional procedures to improve the appearance of the mouth, lip, and nose may be required. Surgery can enhance your child&#39;s appearance, quality of life, and capacity to eat, breathe, and talk. 
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Some possible complications of surgery include:

<ul>
	<li>Bleeding</li>
	<li>Infection</li>
	<li>Poor healing</li>
	<li>Damage to nerves, vessels, or other nearby structures</li>
	<li>Scar enlargement 
	&nbsp;</li>
</ul>

<h5>Treatment For Complications</h5>

Doctors may recommend additional treatment for complications caused by cleft lip and cleft palate:

<ul>
	<li>Feeding methods, such as the use of a customized bottle nipple or feeder</li>
	<li>Speech therapy to help with speaking difficulties</li>
	<li>Braces and other orthodontic changes to the teeth and bite</li>
	<li>Monitoring of tooth development and oral health</li>
	<li>Ear infection assessment and treatment, which may include ear tubes</li>
	<li>Hearing aids or other adaptive equipment for a hearing-impaired child</li>
	<li>Psychological therapy to assist the child in coping with the stress of recurrent surgical treatments or other issues 
	&nbsp;</li>
</ul>

Children with cleft palates frequently experience difficulties with eating, hearing, and speaking. Children might even suffer tooth problems or low self-esteem. 
&nbsp;

<h5>Eating Problems</h5>

Food and liquids can travel from the mouth back into the nose if there is a split or opening in the palate. Because they can&#39;t make a proper seal around the nipple, some babies have trouble nursing (breastfeeding) or drinking from a bottle. 
&nbsp;

<h5>Hearing Loss</h5>

Fluid accumulation (glue ear) in the middle ear is more common in children with a cleft palate. If neglected, this leads to hearing loss. 
&nbsp;

<h5>Speech Problems</h5>

The ability to talk may also be impaired in children with cleft palate. Their speech can be challenging to understand because their voices don&#39;t carry properly and sound nasal. However, surgery might completely solve these speech difficulties. 
&nbsp;

<h5>Dental Problems</h5>

Dental issues in children with clefts include cavities and missing, deformed, or misplaced teeth. They can be more susceptible to alveolar ridge problems, which affect the alveolar ridge (bony upper gum containing teeth). A problem with the alveolus may: 
&nbsp;

<ul>
	<li>Rotate, shift, or tip permanent teeth</li>
	<li>Prevent the emergence of permanent teeth</li>
	<li>Prevent the formation of the alveolar ridge 
	&nbsp;</li>
</ul>

<h5>Emotional Or Social Issues</h5>

Even at an early age, children having clefts may feel self-conscious or uncomfortable about their appearance. This may lead to challenges with their confidence as well as emotional, social, or behavioral problems at school. 
&nbsp;

Based on research conducted by the U.S. Centers for Disease Control and Prevention (CDC), the following factors are known to increase the risk of orofacial clefts<a href="#accordion">[4]</a>: 
&nbsp;

<ul>
	<li>Smoking</li>
</ul>

Compared to pregnant women who do not smoke, women who smoke during pregnancy have a higher risk of having a baby with an orofacial cleft 
&nbsp;

<ul>
	<li><a href="https://merisehat.pk/disease/diabetes-type-1-and-2">Diabetes</a></li>
</ul>

Diabetes before pregnancy increases a woman&rsquo;s risk of having a child with a cleft lip and/or cleft palate. 
&nbsp;

<ul>
	<li>Use Of Certain Medicines</li>
</ul>

Use of certain medications such as anti-epilepsy drugs (e.g., topiramate or valproic acid) during the first trimester can raise the risk of orofacial clefts. Moreover, use of steroid tablets are also associated with cleft lip and palate. 
&nbsp;

Other common risk factors include:

<ul>
	<li><a href="https://merisehat.pk/disease/obesity">Obesity </a>during pregnancy</li>
	<li>Drinking alcohol during pregnancy</li>
	<li>Lack of folic acid during pregnancy</li>
	<li>Family history of cleft lip or cleft palate 
	&nbsp;</li>
</ul>

Discuss measures to improve your likelihood of having a healthy baby with the doctor when you are pregnant or are considering getting pregnant. 
&nbsp;

Parents with babies born with a cleft are often concerned about the possibility of having another child with an orofacial cleft. Although many cases of cleft lip and cleft palate cannot be prevented, the following steps can increase one&rsquo;s understanding of the disease and lower the risk: 
&nbsp;

<ul>
	<li>Consider Genetic Counseling</li>
</ul>

Before getting pregnant, let your doctor know if there is a family history of cleft lip and palate. Your doctor might suggest that you speak with a genetic counselor who can assess your likelihood of giving birth to children suffering from cleft lip and palate. 
&nbsp;

<ul>
	<li>Take Prenatal Vitamins</li>
</ul>

Consult your doctor about whether prenatal vitamins should be taken if you intend to become pregnant soon. 
&nbsp;

<ul>
	<li>Don&#39;t Use Tobacco Or Alcohol</li>
</ul>

The probability of conceiving a baby with a congenital defect increases if alcohol or tobacco is used during pregnancy. 
&nbsp;

Identification of maternal serum biomarkers for prenatal diagnosis of nonsyndromic orofacial clefts<a href="#accordion">[5]</a>. 
Nonsyndromic orofacial clefts (NSOFCs) are the most prevalent congenital anomalies in the oral and maxillofacial regions. They are mostly diagnosed prenatally through fetal ultrasounds. However, ultrasounds aren&rsquo;t the most accurate for NSOFCs. Therefore, researchers are turning to maternal serological screening. This is a non-invasive method for the diagnosis of prenatal abnormalities.

A recent study looked for particular biomarkers in maternal serum that can be used to predict NSOFC before conception. Utilizing isobaric tags for relative and absolute quantitation-based mass spectrometry (MS), researchers examined the differences in maternal serum protein profiles between 20 pregnant women with NSOFC fetuses and 20 pregnant women with healthy fetuses. In the NSOFC group, the serum levels of 50 proteins decreased, and 75 proteins increased.

Multiple reaction monitoring-MS was used to confirm further 28 potential biomarkers, of which 16 proteins were determined to be significantly different. More significantly, ELISAs were used to confirm that serum from pregnant women with NSOFC fetuses had altered levels of three proteins (APOA, HPT, and CRP).

Thus, the study indicates that screening of maternal biomarkers can serve as a feasible strategy for the early detection of NSOFCs. 
&nbsp;

Key Points

<ul>
	<li>A cleft is a division or split. Clefts of the mouth or the lip (cleft lip) are examples of orofacial clefts (cleft palate).</li>
	<li>Cleft lip and palate are birth defects that develop early in pregnancy, while the fetus is developing within the womb. Children can be born with cleft lip, cleft palate, or both.</li>
	<li>A cleft lip can affect either one or both sides of the lip. It might be as minor as a notch, or as large as a gap that touches the nose.</li>
	<li>A cleft palate can be as simple as an opening in the back of the mouth or as complex as a split in the palate that extends toward the front of the mouth</li>
	<li>Orofacial clefts can be identified by medical professionals during prenatal ultrasounds or after the baby is delivered.</li>
	<li>Although the exact cause of some cleft lip, cleft palate, or both is unknown, avoiding certain drugs and quitting smoking during pregnancy could aid in minimizing orofacial clefts.</li>
</ul>

[1] Cleft Lip and Palate. NHS choices.

[2] Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, et al. National populatio

[3] Cleft lip and cleft palate: Causes, diagnosis & treatment. Cleveland Clinic.

[4] Facts about cleft lip and cleft palate. Centers for Disease Control and Prevention.

[5] Wang X, Yang X, Huang P, Meng X, Bian Z, Meng L. Identification of maternal serum biomarkers for prenatal diagnosis of nonsyndromic orofacial clefts. Ann N Y Acad Sci. 2022;1510(1):167–79.