Cleft lip and cleft palate is a congenital anomaly characterized by openings or splits in the upper lip, palate, or both. Cleft lip and palate occur as a result of incomplete fusion/union of facial structures in an unborn baby during development in the womb. It is seen on average in 1/1000 births and occurs between the 8th and 12th weeks of the baby's development in the womb.

The biggest problem in babies born with this disease is that their development is slow due to feeding difficulties in the early period (the first months after birth) and they experience frequent upper and lower respiratory tract infections.

Cleft lip and cleft palate are among the most common birth defects. They most often occur as isolated birth defects but can also be associated with many inherited genetic disorders or syndromes.

Having a baby born with a cleft can be distressing and worrying for parents, but cleft lip and cleft palate can be successfully corrected with appropriate follow-up and treatments. In most babies, a series of surgeries can restore normal function and achieve a more normal appearance with minimal scarring.

Signs/Symptoms

Usually, a cleft in the lip or palate is noticed immediately at birth. Cleft lip and cleft palate may look like this:

• Cleft lip and palate affecting one or both sides of the face

• Isolated cleft lip; unilateral or bilateral cleft lip, appearing only as a small notch in the lip or extending to the upper gum and floor of the nose

• Isolated cleft palate; cleft in the roof of the mouth that does not affect the appearance of the face

Less commonly, the cleft occurs only in the soft palate muscles (submucous cleft palate), which are located behind the roof of the mouth and are covered by a thin layer. This type of cleft is often not noticed at birth and may not be diagnosed until symptoms appear later. Signs and symptoms of submucous cleft palate may include:

• Difficulty in feedings

• Difficulty swallowing, with potential for liquids or foods to come out the nose

• Nasal speaking voice

• Chronic ear infections

Etiology

Cleft lip and cleft palate occurs when the tissues in the baby's face and mouth do not fuse properly. Normally, in the second and third months of pregnancy, the tissues that make up the lip and palate come together. However, in babies with cleft lip and cleft palate, fusion never occurs or occurs only partially, leaving an opening (cleft).

Research shows that most cases of cleft lip and cleft palate are caused by the interaction of genetic and environmental factors. However, in many babies, no definitive cause can be found.

Risk factors

Several factors can increase the likelihood of a baby developing a cleft lip and cleft palate, including:

• Family history: Parents with a family history of cleft lip or cleft palate are at risk of having a baby with cleft.

• Exposure to certain substances during pregnancy: Babies of pregnant women who smoke, drink alcohol, or take certain medications may be more likely to develop cleft lip and cleft palate.

• Diabetes: There is some evidence that women diagnosed with diabetes before pregnancy may be at increased risk of having a baby with a cleft palate or cleft lip.

• Being obese during pregnancy: There is some evidence that babies born to obese women may have an increased risk of cleft lip and palate.

Males are more likely to be born with a cleft lip, with or without a cleft palate. Cleft palate without cleft lip is more common in females.

Complications

Children with cleft palate or isolated cleft lip face a variety of challenges depending on the type and severity of the cleft.

• Difficulty in feeding: One of the most pressing concerns after birth is nutrition. While most babies with cleft lips can be breastfed, a cleft palate can make breastfeeding difficult.

• Ear infections and hearing loss: Especially in babies with cleft palate, the risk of developing middle ear fluid and hearing loss is high.

• Dental problems: If the split extends to the upper gum, tooth development may be affected.

• Speech difficulties: Palate; because it is used to create sounds, a cleft palate can affect the development of normal speech.

• Difficulties in coping with a medical condition: Children born with a cleft may face social, emotional and behavioral problems due to the difference in their appearance and the stress of the intensive treatment process.

Precautions That Can Be Taken

After a baby is born with a cleft, parents understandably worry about the possibility of having another child with the same condition. Although most cases of cleft lip and cleft palate cannot be prevented, consider these steps to increase your understanding or reduce your risk:

• Consider genetic counseling: If you have a family history of cleft lip or cleft palate, let your doctor know before getting pregnant. Your doctor may refer you to a genetic counselor who can help determine your risk of having a child with cleft lip and cleft palate.

• Prenatal vitamin supplements: If you plan to get pregnant soon, ask your doctor if you should take prenatal vitamins.

• Do not use tobacco or alcohol: The usage of alcohol or tobacco during pregnancy increases the risk of having a baby with birth defects.

Diagnosis

Most cases of cleft lip and palate are noticed immediately at birth and do not require special tests for diagnosis. Cleft lip and palate cases can be detected more frequently with ultrasound performed before the baby is born.

Ultrasound Before Birth

A prenatal ultrasound is a test that uses sound waves to create a view of the developing fetus. Your doctor may detect a difference in facial structures when analyzing images obtained with ultrasound.

Cleft lip can be detected by ultrasound starting from the 13th week of pregnancy. As the fetus continues to develop, it may become easier to accurately diagnose cleft lip. A cleft palate occurring alone is more difficult to see with ultrasound.

If a cleft is seen on a prenatal ultrasound, your doctor may recommend a procedure to take a sample of amniotic fluid from your uterus (amniocentesis). This test may show that the fetus has a inherited genetic syndrome that can cause other birth defects. However, the cause of cleft lip and cleft palate is mostly unknown.

Treatment

The goals of cleft lip and cleft palate treatment are to improve the child's ability to eat, speak and hear normally and to achieve a normal facial appearance.

Care of children with cleft lip and cleft palate usually takes place with a multidisciplinary approach and the participation of a team that includes various branches:

• Plastic surgeons who specialize in cleft repair
• Pediatricians
• Pediatric dentists
• Orthodontists
• Nurses
• Auditory or audiologists
• Speech therapists
• Genetic counselors
• Social workers
• Psychologists

Treatment includes a surgical operation to repair the existing cleft and therapy procedures to improve related conditions. Treatment of babies with cleft lip and palate can be started after the first 48 hours after birth with the use of various apparatus and taping techniques, but preferably the operation should be carried out 2-6 months after birth.

In addition to surgical procedures related to this disease, regardless of the severity of the disease, the baby should be evaluated by an orthodontist immediately after birth, and the development of the anatomical structures should be regularly checked with various intraoral or extraoral devices depending on the type of disease. Since the sucking function of babies born with cleft is not sufficient, the mother is explained in detail about the baby's feeding method (on her arms and with a spoon or a special bottle, and using an intraoral obturator in babies with cleft palate).

Operation

Cleft lip and palate repair depends on your child's specific situation. After initial cleft repair, your doctor may recommend follow-up surgeries to improve speech or improve the appearance of the lips and nose.

Surgeries are usually performed in this order:

• Cleft lip repair – within the first 3 to 6 months
• Cleft palate repair – approximately 9-12 months of age
• Follow-up surgeries – between age 2 and late teenage years
• Cleft lip-nose repair – can usually be done from the age of 18

Several different surgical techniques and procedures are used to repair cleft lip and palate, to reconstruct the affected areas, and prevent or treat related complications.

In general, procedures may include:

Cleft lip repair: To close the opening in the lip, the surgeon makes incisions on both sides of the cleft and creates tissue flaps. All components of the opening, including the skin defect and lip muscles, are then repaired. The repair should create a more normal lip appearance, structure and function. If necessary, nose repair is usually done at the same time.

Cleft palate repair: Depending on your child's condition, various procedures may be used to close the opening and reconstruct the roof of the mouth (hard and soft palate). The surgeon makes incisions on both sides of the cleft and repairs the mucosal tissue and muscles.

Ear tube surgery: In children with cleft palate, ear tubes may be placed to reduce the risk of chronic ear flui that can cause hearing loss. Ear tube surgery involves inserting small coil-shaped tubes to create an opening to prevent fluid buildup.

Surgeries to improve appearance: Minor additional surgeries may be needed later to improve the appearance of the mouth, lips and nose.

Surgery can significantly improve your child's appearance, quality of life, and ability to eat, breathe, and speak. Possible but unlikely risks of surgery include bleeding, infection, slow healing, widening of scars, and temporary or permanent damage to nerves, blood vessels, or other structures.

Post-Operative Care

It is extremely important to comply with the recommendations given by an experienced doctor before and after the surgery. Proper nutrition of a baby who has had cleft palate surgery is very important for the health of the baby. In the first period after the surgery, parents are told about the consistency of the food to be given and what type of food will be prioritized. The family is warned that these foods should be especially soft and puree-like.

Treatment of complications

Your doctor may recommend additional treatment for complications that may arise from cleft lip and cleft palate. Examples include:

• Feeding strategies, such as using a special bottle teat or feeder
• Speech therapy to correct speech difficulties
• Orthodontic interventions to improve the alignment of teeth
• Monitoring of dental development and oral health by the pediatric dentist from an early age
• Procedures for monitoring and treating ear infections, which may include ear tube placement
• Hearing aids or other assistive devices for a child with hearing loss
• Follow-up with a child psychiatrist to help the child cope with stress or other concerns created by repeated medical procedures.
• Coping and support

No one expects to have a baby with a birth defect. When the excitement and joy of birth is combined with the stress of discovering that your baby has a cleft lip or palate, the experience can be emotionally challenging for the entire family.

For parents and family

When you have a baby with cleft lip and cleft palate: Don't blame yourself. Focus your energy on supporting and helping your child. Accept your feelings. It's completely normal to feel sad, overwhelmed, and upset.

For your child

You can support your child in many ways: Focus on your child as a person, not on his or her cleft. Point out positive qualities in others that have nothing to do with physical appearance. Help your child gain confidence by letting him/her make decisions. Encourage confident body language, such as smiling and keeping head up with shoulders back. Keep communication channels open. If teasing or self-esteem issues arise at school, this can help your child feel safe talking about it with you so you can help resolve these issues.

Cleft Lip Nose Deformity

Infants who are born with a cleft lip often have an associated nose deformity, which is called the cleft lip nasal deformity, or cleft nose. Although patients with cleft nose deformity may undergo multiple nasal surgeries in infancy and childhood, they can still have a residual deformity or breathing difficulty when they get to their high school years or young adulthood.  Because most cleft lip and palate multidisciplinary teams only treat patients until age 21, it is often difficult for patients with residual cleft nose deformities to find surgeons with experience treating adult cleft nose deformity. 

Classically, the unilateral cleft lip nose deformity shows asymmetry between the cleft and non-cleft sides, with the cleft side nostril less projecting and wider. The base of the ala may be asymmetric as well, with the cleft side displaced posteriorly and superiorly. The septum is often deviated with an enlarged inferior turbinate, which makes breathing difficult. The columella may be short and constricted.  Finally, the nostril sill, where the opening of the nose meets the upper lip, is usually depressed and flattened. 

Similarly, the bilateral cleft lip nose deformity has a characteristic appearance as well. Typically, the left and right sides are not extremely asymmetric but the nostrils may be very deformed in shape and may be abnormally oriented. The nasal tip is often broad, and the columella on the underside of the nose is usually very short. 

A cleft lip nasal deformity reconstruction, or cleft nose rhinoplasty is different than a standard rhinoplasty in that the anatomy of the cleft nose is distorted and cartilage structures are not normally shaped.  Additionally, there frequently is scar tissue present within the nose as a result of previous surgeries. The goal of each cleft nose rhinoplasty is an improvement in both nasal appearance and function. To correct deformities and provide a lonlasting result, generally rib cartilage will be needed.