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Anomalies - Head and Neck
Cleft Lip and/or Pallette

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Introduction Antenatal Postnatal West Midlands Data


Facial clefting is the most common congenital malformation affecting the head and neck. Clefts can involve the lip, the soft or hard palate, and can vary from a minor notching of the lip or duplication of the uvula to a complete defect that involves the entire lip and palate. The lip is not only an important cosmetic feature of the face, it also has functional significance in accurate speech and feeding.

A facial cleft may be unilateral or bilateral, with the more severe lesions tending to be bilateral and the relatively minor anomalies unilateral. The majority of clefts are isolated, but some, particularly the large bilateral clefts are associated with underlying causes, the most well recognised of which are the lethal trisomies 13, and 18. Under such circumstances however, the facial cleft may be less significant than the accompanying abnormalities.

Isolated cleft lip and/or palate evolve from a combination of genetic and environment influences. There is an increased risk if a sibling or parent is affected, implying a genetic influence in some families. Teratogens such as alcohol, tobacco (which may be increasingly relevant as the number of young women smokers is on the increase), vitamin A and certain drugs such as anti-epileptics are known to be aetiological factors in a minority of facial clefts.

Cleft lip can occur with or without cleft palate and has a different aetiology from an isolated cleft palate as the embryological origin of the two facial clefts are different. Abnormal development of the primary palate leads to cleft lip but also may interfere with the development of the palate leading to combined cleft lip/palate. The development of cleft palate occurs as a later event during formation of the secondary palate and the lip does not become involved.

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Ultrasound imaging can be used to diagnose cleft lip and to a more limited extent cleft palate as the hard palate is difficult to visualise and so diagnosis is uncertain. The prenatal diagnosis of isolated lesions can be difficult and careful ultrasound surveillance is required. In some series of apparently isolated lesions, up to 20% are subsequently found to have associated anomalies. The diagnosis of cleft lip may be made by ultrasound by 13 weeks and of cleft palate by 18 weeks but is usually made at 20 weeks at the mid trimester scan.

Identification of a cleft may prompt a karyotyping procedure to exclude any underlying chromosome defect, especially if a bilateral or midline cleft is seen. In the majority of fetuses affected by a lethal trisomy there will be additional structural abnormalities that can be diagnosed on ultrasound then the survey should include the heart, a search for intracranial anomalies and for amniotic bands.

Although experimental, in-utero surgery has been attempted for cleft lip and palate, the only perceived advantage is the improved healing and reduced scarring. The major disadvantage is the risk of preterm labour and the associated perinatal and maternal morbidity and mortality.

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Treatment of facial clefts has improved over recent years, not only with advances in surgical care but also with the development of a multidisciplinary approach to ensure that continued care is provided from infancy through to adult life. The initial care of the neonate involves establishing satisfactory feeding, and this depends upon the severity of the lesion, the gestation at delivery and the wishes of the parents. Most babies can be breast-fed, or bottle fed with breast milk with minor adaptations to normal methods. The premature baby can present difficulties as the suckling reflexes are poorly developed, and this may require tube feeding initially.

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To be added

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© Perinatal Institute 2011