Cleft lip and cleft palate

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at May 31, 2016
StartDiseasesCleft lip and cleft palate

Cleft lip and cleft palate are birth defects occurring when the lips or mouth of a baby form improperly. They occur early in pregnancy. The affected baby may develop one or both of the abnormalities. Another term for these birth defects is orofacial clefts.

Contents

Definition & Facts

During a baby's development, special cells and body tissue grow toward the face's center and join to form the face. A cleft lip occurs when the lip fails to join completely before birth. A cleft palate occurs if tissue in the roof of the mouth – the palate - fails to join completely.

Sometimes one or both lips form improperly. For some babies, only a portion of the palate is open. In others, both the soft palate which is the back part of the palate and the hard palate which is the front part of the palate are open.

Symptoms & Complaints

Usually, a cleft palate or lip is identifiable immediately when a baby is born. Cleft palates and lips appear as splits in the roof and mouth. They affect either or both sides of the facial area. Lip splits appear as small notches or extend from the lips through the gums and palates to the bottom of noses. Split roofs have no effect on the facial appearance.

Sometimes, clefts occur only in the soft palate muscles. The location of those muscles is at the rear of the mouth. That type of cleft frequently is not noticeable at birth. Later signs indicate there is a cleft. The signs include difficulty feeding and swallowing and food or liquids coming from the nose, because of an abnormal barrier between the nose and mouth.

Speech problems are common. The voice has a nasal quality. Speech problems are more likely with cleft palates than lips. Chronic ear infections and Eustachian tube problems are possible. Eustachian tubes drain fluid from the ears and ensure the pressure is equal on each side of the eardrum. Tubes that drain improperly sometimes cause loss of hearing

Causes

The cause of cleft palates and lips is not fully understood. Some babies seem to inherit a cleft palate or lip. The chances of developing a cleft lip or palate seem to increase if a relative, parent, or sibling had the problem. Multiple instances of similar clefts sometimes occur in a family.

Medications taken by the mother during pregnancy are possible causes. Drugs with a link to cleft lip or clef palate include drugs used in treating psoriasis, arthritis, and cancer. Drugs containing methotrexate and Accutane® are other possible problematic drugs.

Scientists believe that taking part in certain activities while pregnant may cause clefts to develop. Smoking cigarettes, drinking alcohol, or illegal drugs are potential hazards to an unborn child. It has been shown that clefts have developed in some babies whose mothers used these substances.

Clefts are sometimes isolated birth defects. They can also be part of a genetic disorder like velocardiofacial syndrome or van der Woude syndrome. 13 to 30 percent of infants have clefts that are part of genetic birth defect syndromes.

Cleft palates and lips develop in some cases when a fetus, developing in the womb, incurs exposure to certain environmental chemicals or viruses

Diagnosis & Tests

Most cases are apparent immediately at birth when a doctor performs a complete physical examination. No special tests are necessary. In order to perform a prenatal diagnosis, ultrasounds are used. It takes place 18 to 20 weeks into the pregnancy. The prenatal ultrasound uses high-frequency sound waves to create an image of the infant developing in the uterus. As the fetus develops, it becomes easier to diagnose a cleft lip. Occasionally, the scan fails to pick up a cleft lip if the face is not visible during the scan. A cleft palate, occurring alone, is not as easy to detect with ultrasound.

When a cleft lip or palate discovery occurs, doctors may want to remove some amniotic fluid that surrounds the baby in order to test it for genetic and chromosomal abnormalities like van der Woude syndrome and other genetic birth defects and syndromes to which cleft palates and cleft lips have an association. These include Apert syndrome, Edwards syndrome, DiGeorge's syndrome (also called velocardiofacial syndrome), Goldenhar syndrome, and Pierre Robin syndrome.

Due to these associated disorders' symptoms and characteristics, diagnosis may be crucial in order to provide and prepare adequate care for the child. For example, DiGeorge's syndrome is characterized by learning disabilities and congenital heart defects that will need to be addressed through a comprehensive treatment plan.

Treatment & Therapy

The goal of cleft palate and lip treatment is to improve the child's eating and speaking ability, to allow normal hearing, and to alter the facial appearance so that it appears more like those without cleft defects. Teams of experts and doctors care for children with clefts. The list of team members includes auditory or hearing specialists, otolaryngologists (ENTs), pediatricians, psychologists, surgeons, and social workers.

Treatment involves surgery and therapy for related conditions. Cleft palate repair is performed through a palatoplasty which usually takes place when the infant is between six months and eighteen months of age, and it will close the defect in the palate. There are a variety of approaches for how to accomplish the total repair of the cleft lip and palate. Some approaches involve repairing the palate first and performing lip repairs in subsequent surgeries. Other approaches involve performing all repairs in one surgery: soft palate repair, hard palate repair, and cleft lip repair.

Additional treatment recommendations involve feeding strategies, speech therapy, orthodontic adjustments, and monitoring and treatment of ear infections. Special bottles are designed to help feed babies with cleft lip and cleft palate. Ear tubes help with chronic ear infections. Assistive devices such as hearing aids help with hearing loss. Psychological therapy helps children cope with stress caused by medical procedures and other concerns.

Prevention & Prophylaxis

If a family history of cleft palate or lip exists, prospective parents may opt for genetic counseling before getting pregnant. A genetic counselor may be able to determine the risk of a child having a cleft palate or lip. Prospective parents should ask their doctor about taking prenatal vitamins because taking a folic acid supplement in the first and mid first trimester may help prevent cleft lip and cleft palate.

Pregnant mothers should discuss adverse side-effects of medications and if it is safe to stop their usage during pregnancy. Benzodiazepine, anticonvulsants, and corticosteroids increase the risk of clefts and should probably be avoided. Quitting tobacco and alcohol use during pregnancy is essential to ensuring a healthy pregnancy.