In the first of a series of articles, the Cleft Team from Birmingham Children's Hospital explain the different types of cleft lip and palate and the services available to help children born with these anomalies
Cleft lip and/or cleft palate affects about 1:700 babies born in the UK and may occur as a single anomaly or in association with other congenital abnormalities as part of a syndrome.This article, the first in a series, provides a brief overview of the different types of cleft lip and palate and describes the organisation of regional cleft services in England and Wales. Journal of Family Health Care 2009; 19(3): 101-103
_ Cleft lip and/or palate is a congenital abnormality affecting approximately 1:700 babies born in the UK
_ The causes are unknown in most cases and a cleft usually occurs as a "one off" in a family
_ Cleft lip and/or palate may occur on its own with no other problems
_ Alternatively it may be part of a syndrome, such as DiGeorge or 22q11 deletion syndrome. There are a large number of syndromes where cleft lip/palate may be a feature
_ Other anomalies may be present, especially in babies with an isolated cleft palate, and it is important to look for other possible abnormalities
_ Successful treatment and management depends on a multidisciplinary team of surgeons, paediatricians, therapists, nurses and geneticists
_ In the UK, teams are based in Regional Cleft Centres, working on a hub-and-spoke model with some follow-up care provided more locally near the family's home
Clefts of the lip and/or palate affect approximately one in every 700 babies born in the UK, and are the most common congenital craniofacial anomaly. A cleft of the lip and/or palate occurs early in pregnancy (weeks 5-10 of gestation). As the embryo grows after conception, three processes develop and fuse to form the upper lip, nose and roof of the mouth (palate). The lip usually fuses and forms at around five to six weeks after conception and the palate at around ten weeks. The normal anatomy of the face that results is shown in Figure 1. A cleft lip and/or palate occurs as a result of failure of this fusion of processes. A cleft lip (though not a cleft palate) may be detected on routine antenatal scanning. This will be discussed further in the second article.
The cause of this failure of fusion is not known in most cases, and a cleft lip and/or palate usually occurs as a "one off " within a family. It may happen as a result of a number of genetic and environmental factors which occur together in a way that could not have been predicted or prevented in advance. Smoking in the first weeks of pregnancy, however, is linked with a slightly higher risk of having a child with a cleft. There are clear links between high levels of drinking alcohol during pregnancy and having a child with a cleft. Some types of medicines taken in pregnancy may also increase the risk of having a baby with a cleft.
These include anticonvulsants, medicines forinsomnia, medicines for anxiety (such as diazepam) and corticosteroids. In a minority of families there may be a genetic cause for clefting, which may result in a higher chance of cleft lip and/or palate happening again within the family. Where there is no known cause of the cleft lip and/or palate and no other member of the family is affected, the risk of another baby being born to that family with a cleft will be small (less than 5%), but a little higher than for families where no child has ever been born with a cleft.
Types of clefts
There are two major types of clefts:
_ cleft lip with or without a cleft palate
_ isolated cleft palate.
Cleft lip with or without cleft palate occurs more frequently in boys than girls whereas isolated cleft palate occurs more evenly amongst girls and boys, with some studies showing more girls than boys affected. Cleft lip with or without cleft palate also occurs more frequently in some races than others. Asian populations have a higher incidence than Caucasian populations, who in turn are more frequently affected than Afro-Caribbean populations. Isolated cleft palate occurs evenly in all races1. Up to 50% of the babies referred to a Cleft Service will have an isolated cleft palate (see Figure 2.). An isolated cleft of the palate involves some or all of the soft palate and may also go into the hard palate A cleft lip is a gap in the lip extending into the nostril on one side. The babies referred with a cleft lip with or without cleft palate may only have a cleft of the lip (Figure 3) or they may have a cleft affecting the lip, the upper gum (alveolus) and the palate (Figure 4). The cleft of the lip and gum may be complete (leaving no part of the lip or gum across the gap) or incomplete (leaving some tissues intact) and may affect only one side (unilateral) or both sides (bilateral) of the nose. The proportions of children affected by each type of cleft will vary from year to year to some extent. Table 1 shows the proportions of different types of cleft.
Submucous cleft palate
Some children may have a condition where the palate appears to be intact, but there are underlying muscle and bone defects. This is known as a submucous cleft palate. It is often not diagnosed until a child begins to speak, but there may be a history of early feeding difficulties. A submucous cleft palate may happen in association with a cleft lip, but most happen with no involvement of the lip.
Cleft lip and/or palate may occur on its own with no other problems, or as part of a syndrome.
There are a very large number of syndromes where a cleft lip/and or palate may be a feature. These are most frequently associated with isolated cleft palate and up to 50% of babies with an isolated cleft palate may have another congenital anomaly or a named syndrome. It is not possible to discuss all the syndromes associated with cleft lip and palate in this article, but it is important to look for other anomalies in a baby with a cleft lip and/or palate. Syndromes that may involve a cleft of the lip and/or palate and are most frequently encountered by a cleft team include 22q11 deletion, Van der Woude syndrome and Stickler syndrome.
This syndrome is the result of a deletion on the long arm of chromosome 22. It is also known as DiGeorge syndrome, Shprintzen syndrome and Velocardiofacial syndrome. It can cause a very large number of anomalies including characteristic facial features, cardiac anomalies, palate problems, low blood calcium levels and low immunity. People with this syndrome may have many or only some of the possible problems and each of these to a varying degree. So, for example, the palatal problems may be an isolated cleft palate; a submucous cleft palate; a soft palate that looks normal but does not function normally, causing problems with speech and sometimes feeding; or no palate problems at all.
Van der Woude syndrome
Van der Woude syndrome may cause a cleft lip and/or palate or an isolated cleft palate. It can also cause pits in the lower lip and this is usually the clue to the person having the syndrome. This syndrome is also variable in how it affects people who may only have pits in the lip that they are not really aware of, or they may have lip pits and a very severe cleft lip and/or palate. The syndrome is inherited in an autosomal dominant way, meaning that if a person has Van der Woude syndrome they will have a 50% chance of passing the condition on to their children.
Stickler syndrome also has an autosomal dominant pattern of inheritance and is made up of isolated cleft palate, high myopia with a risk of retinal detachment, hearing loss and arthropathy. It is also variably expressed. It is thought that up to 30% of infants with Pierre Robin Sequence (see below) may have Stickler syndrome.
Pierre Robin sequence
Some babies born with an isolated cleft palate also have a small lower jaw. In Pierre Robin sequence it is thought that a very small lower jaw results in the formation of the cleft palate during embryological development.
The diagnosis of Pierre Robin sequence is made when an isolated cleft palate occurs in association with a small lower jaw and a tongue that tends to fall back in the mouth, the position of the tongue resulting in feeding and breathing problems of varying severity. Such a newborn baby may need to be monitored in hospital and may need intervention to assist feeding and maintain the airway. Intervention may include feeding the baby via a nasogastric feeding tube and the use of a nasopharyngeal airway to relieve upper airway obstruction. Most babies with these problems will grow out of them by the age of six months, with lower jaw "catch up" in growth in the first two years of life.
Organisation of cleft care in the UK
Babies born with a cleft of the lip and/or palate and their families will have a number of problems to overcome. The degree and nature of the difficulties experienced will vary from child to child but may include problems with feeding, appearance, hearing, speech, dental development and social/psychological issues.
These problems are often complex and interlinked. Appropriate care requires a large multidisciplinary team to work closely together in the best interests of the patient and their family throughout the growth and development of the child to adulthood. The treatment of cleft lip and palate will be discussed in more detail in the following articles. In 1998 the Department of Health commissioned a national review of cleft services in England and Wales by the Clinical Standards Advisory Group (CSAG)2. This led to the reorganisation of commissioning and the development of specialised Regional Cleft Centres3.
All such centres provide a highly multidisciplinary approach to treatment and care with a team of specialists (shown in Table 2). Teams are led by a clinical director and a cleft services manager. Information on the location of cleft services in Scotland and Northern Ireland, as well as in England and Wales, is available from the voluntary organisation CLAPA (see Resources). All Cleft Centres in the UK deliver care based on a hub-and-spoke principle. The details of the way in which care is delivered differs throughout England and Wales, with some centres providing more outreach services and others using a more centralised approach. The way in which each service is organised is largely governed by regional geographical considerations. For all centres, however, planning and monitoring of care and cleft surgery is provided in the specialist centre.
The Cleft Care Pathway
In the Cleft Centres patients and their families are seen according to nationally agreed standards and care pathways. Patients and their families are seen by the Cleft Team from the time of diagnosis and are followed up until adulthood. During this time treatment will include primary surgical repair of the lip and/or palate, usually in the first year of life. Over time the children may also undergo a number of further interventions (including surgery) to improve, for example, speech, hearing, dentition and appearance. As much treatment as possible (for example, speech and language therapy) will be provided locally, and throughout treatment the Cleft Team maintain close links with health professionals in local hospitals and community services. Where children have complex and multiple health needs in addition to their cleft, close collaboration with other specialties both in the community and during hospital admissions is required.
Cleft Teams also provide care for adults who develop problems related to the fact they were born with a cleft lip and/or palate, or to the treatment they had when younger. Adults may be motivated to seek help at any stage in life. This may occur as a result of changes in social circumstances, as a result of continued development (for example loss of teeth and problems with dental rehabilitation), or as a result of increased awareness of changing treatments. Cleft teams regularly collect information on the outcomes of cleft care according to the requirements of the CSAG report. Such audit data includes information about care at the time of diagnosis and birth, speech, facial growth, appearance of lip and nose, hearing and psychological well-being. This data is currently audited at a local, multicentre and national level.
Rona Slator DPhil FRCS FRCS(Plast) Consultant Plastic Surgeon and Clinical Director - Cleft Service (West Midlands Regional Cleft Centre)Jane Russell PhD FRCSLT Lead Specialist Speech and Language TherapistMelody Bridges BA(Hons) MSc MIHM Cleft Service ManagerJayne Tomlinson RGN RSCN Cleft Nurse SpecialistAnnie Cole SRN RSCN Lead Cleft Nurse SpecialistDr Jenny Morton MBChB FRCP Consultant Clinical Geneticist West Midlands Regional Cleft Centre Birmingham Children's Hospital NHS Foundation Trust Birmingham
CLAPA (Cleft Lip and Palate Association) http://www.clapa.com CLAPA is the only UK-wide voluntary organisation for children and adults with cleft lip and palate, their families and anyone affected by the condition. More details will be given in future articles in the series.
1. Fitzpatrick DR, Raine PA, Boorman JG. Facial clefts in the west of Scotland in the period 1980-1984: epidemiology and genetic diagnoses. Journal of Medical Genetics 1994; 31(2): 126-129
2. Department of Health [DH]. Health Service Circular 1998/002: Clinical Standards Advisory Group [CSAG]. Report on Cleft Lip and Palate Services. London: DH, 1998
3. Departments of Health [DH]. Health Service Circular 238/1998: Cleft Lip and Palate Services: Commissioning Specialised Services. London: DH, 1998