Cleft Lip and Palate

A common, non life threatening abnormality, which can have significant effect on maternal bonding. It may be associated with a syndrome, (there are >150 of these) in 30% of all cleft lip and palate.

Incidence

One of the commonest congenital abnormalities with a world wide incidence of 1.4 per 1000.¹

• It is more common in Asian populations at 1.7/1000; American Indians 3.6/1000. Less common in African Americans - 0.4 per 1000.
• Males are more commonly affected than females.
• Cleft palate alone is found in 0.5 in 1000; females are more often affected than males.

Risk Factors

There is a known risk in taking certain types of drugs during pregnancy e.g. Phenytoin, sodium valproate, benzodiazepines and corticosteroids.

• There may be a link to maternal smoking whereby the risks for clefts are increased among fetuses lacking enzymes involved in the detoxification of tobacco-derived chemicals.²
• Alcohol use, and specifically type, may also be a factor.³
• There is debate on the role of folic acid;^4,5 there may be dose dependency.⁶

Genetic Factors

• If both parents are unaffected, but have one child with a cleft, the chance of the second child being similarly affected is 2-8%.
• If one or other parent has a cleft, the risk of a cleft in a child is 4-6% with each pregnancy.
• If the cleft is not associated with a syndrome, there is an associated gene; Interferon Regulatory Factor 6 gene variants can confer a risk for isolated cleft lip and palate. This can be identified in approximately 15% of patients.⁷

Recent genetic studies on human populations have demonstrated that non-syndromic clefting has distinct genetic backgrounds which may then be revealed by environmental factors. Several loci (1 to 10) have been identified.⁸

The lip has usually formed by 5-6 weeks of interuterine life.⁹ The palate has formed by 10 weeks.
The cleft may be picked up by high resolution ultrasound at 20 weeks gestation.
Diagnosis is otherwise made after delivery.

• Cleft lip may be unilateral or bilateral. The split runs from the edge of the philtrum to the margin of the nostril.
• Complete (extending through the length of the lip to the nose), or incomplete. The cleft is central in the palate.

Symptoms

Obvious gap in the new-born lip, usually upper lip is affected.

Signs

Further inspection and palpation, (there may be no defect in the mucosa covering the palate) of the roof of the mouth should reveal clefting of the hard and/or soft palate also.
The newborn may have difficulty feeding as a consequence of being unable to create a sufficient vacuum. However, most babies will be able to breast feed.
There are special teats and bottles available to deliver the milk to the back of the throat, or a dental plate can be used to seal the roof of the mouth.
There may be associated poor weight gain, but they catch up by 6 months.

Mainly syndromal versus isolated.
Associated syndromes include:

• Apert's Syndrome¹⁰
• Goldenhar Syndrome¹¹
• Di George Syndrome; this is underdevelopment of the third and fourth pharyngeal pouches. It syndrome is often associated with congenital heart defects, abnormalities of the large blood vessels around the heart, failure of the esophageal tube to develop, abnormalities of facial structures, and of hypoparathyroidism. In most cases, there is a defect on chromosome 22.
• CHARGE Syndrome¹² (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness)
• 3q 29 microdeletion syndrome¹³
• Pierre-Robin syndrome
• Trisomy 18 (Edward's), Trisomy 13 (Patau's) and 15
• Van der Woude Syndrome¹⁴

Thorough physical examination of the neonate by paediatrician to exclude presence of associated syndrome.¹⁵Chromosome analysis may be required.

• Females may have increased risk of breast cancer and primary brain malignancy.
• Males have increased risk of primary lung cancer.¹⁶
• Psycho-social problems may also be associated with clefting. None are major, but there may be behavioural problems, anxiety and depression.¹⁷ (There is a lack of good quality, uniform evidence on the subject).

General Points

Ideally patients should be managed by a multidisciplinary team which includes:
Plastic surgeons, maxillo-facial surgeons, ENT, speech and language therapists, dentists, orthodontists, psychologists and specialist nurses. They will provide support and treatment until the child stops growing at around 18 years old.

Surgical

This is the bulk of the treatment. A number of operations will be required as the child grows.

• Primary lip closure is performed at 3/12 after birth, as long as weight and haemoglobin levels are adequate. Palate closure is performed at 6-12 months.
• Further operations are performed to improve appearance. If there is a gap in the gums, a bone graft may be required.

Recent advances in fetal (intra-uterine) surgery using a fetal endoscopic technique, offer the exciting prospect for this condition of scar-less wound healing, and bone healing without callus formation. There is also better or normal maxillary growth. As the technique improves the outcome for mother and fetus are improving.¹⁸

• Chronic glue ear
• Hearing loss; the muscles of the palate affect the ear
• Dental cavities
• Displaced teeth
• Poor speech; the degree of problem is not related to the size of the defect. Speech is normally fine after repair, but may sound nasal.
• Lip deformity
• Nasal deformity

Treatment lasts over several years, but it is possible to achieve a normal appearance, normal speech and eating habits.

Genetic counselling can identify high risk families.

• Hippocrates and Galen both describe cleft lip in their works.
• Cleft palate was thought to be secondary to syphilis and not recognised as a congenital abnormality until 1556, nearly 2000 years after Hippocrates. The first closure of a soft palate was in 1764 by a French dentist, Le Monnier.
• The first hard palate closure was in 1834 by Dieffenbach.