Cleft Lip And Cleft Palate Case Study

Cleft Lip and Palate: Etiology, Epidemiology, Preventive and Intervention Strategies

Eman Allam1,2* and Cynthia Stone3

1Department of Oral Biology, Indiana University School of Dentistry, Indianapolis, IN, USA

2Oral and Dental Research Division, National Research Centre, Cairo, Egypt

3Department of Health Policy and Management, School of Public Health at IUPUI, Indianapolis, IN, USA

*Corresponding Author:
Eman Allam
Department of Oral Biology, Indiana University School of Dentistry
1121 West Michigan Street, DS 271
Indianapolis, IN 46202, USA
Tel: 317-274-1448
Fax: 317-278-1411
E-mail:[email protected]

Received date: June 24, 2014; Accepted date: July 29, 2014; Published date: July 31, 2014

Citation: Allam E, Stone C (2014) Cleft Lip and Palate: Etiology, Epidemiology, Preventive and Intervention Strategies . Anat Physiol 4: 150. doi: 10.4172/2161-0940.1000150

Copyright: © 2014 Allam E, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited


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Cleft lip and palate represent a major public health problem due to the possible associated life-long morbidity, complex etiology, and the extensive multidisciplinary commitment required for intervention. It affects about 1.5 per 1000 live births (250,000 new cases per year) worldwide, with tremendous variations across geographic areas and ethnic groups. It is considered a debilitating condition that is associated with significant feeding, hearing, speech, and psychological impairments. The wide surgical, dental, speech, social, and medical involvement emphasize the importance of understanding the underlying determinants of these defects to allow optimizing the treatment options and predicting the long-term course of the affected individuals development. Optimal and early surgical intervention is necessary and folic acid supplementation proved to be a highly efficient preventive strategy. However, there are still many challenges to be addressed for cleft care especially in the developing parts of the world.


Cleft lip and palate; Genetics; Epidemiology; Intervention


Cleft lip and palate are considered one of the most common birth defects that possess significant medical, psychological, social, and financial implications on the affected individuals and families. Clefts have a complex etiology with both genetics and environment playing a role. Risk factors such as folic acid deficiency, maternal age, and maternal smoking have been linked to the development of clefts. In addition to the aesthetic disfigurement, a child with cleft lip and/or palate suffers substantial functional morbidity such as restricted maxillofacial growth, speech anomalies, swallowing and feeding difficulties, hearing loss and/or recurrent ear infections. Although not generally life-threatening, living with a cleft elicits a significant health burden [1,2].

Orofacial clefts (OFCs) describe a range of neonatal anomalies that involve structures around the oral cavity and may extend to the surrounding facial structures resulting in extensive craniofacial deformity. The main categories are isolated cleft palate (CP) and cleft lip with or without cleft palate (CL/P). Both types may present either isolated or as part of a syndrome or other associated abnormalities. Affected children suffer a range of medical problems that include feeding difficulties at birth due to problems with oral seal, swallowing and nasal regurgitation, hearing difficulties due to abnormalities in the palatal musculature, and speech difficulties due to nasal escape and articulation problems. These cleft defects have a long term, adverse influence on the health and social integration of affected individuals because even though they can be surgically repaired early in childhood, residual deformity due to scarring and abnormal facial development results in continuing functional and psychosocial problems [3,4].

A multidisciplinary approach to the OFC treatment is widely accepted all over the world. The multidisciplinary team usually includes plastic surgeons, oral surgeon, otolaryngologist, speech therapist, audiologist, orthodontists, psychologist, social worker, and a specialist nurse. The optimum treatment plan includes primary surgery to close the defect, ongoing speech therapy and orthodontic plan, and secondary and tertiary surgeries to refine the initial surgical results. In most cases the primary surgery has to be planned within the first six months after birth. However, in most developing countries the shortage of the qualified surgeons and other specialists as well as financial disparities and the unavailable equipped facilities result in inappropriate case management and sometimes many OFC children even remain untreated [5].


CL/P is etiologically heterogeneous with both genetics and environmental contributions. With the advent of the genomics era and advances in both quantitative and molecular analysis techniques, there have been great improvements in the identification of causative genetic mutations and associations underlying syndromic forms of CL/P (Table 1). On the other hand, there is currently little progress in identifying and understanding of the genetic etiology of isolated (non-syndromic) CL/P cases [6-9].

Cleft lip ± cleft palate (CL/P)
Autosomaldominant developmental malformations
Deafness and dystonia — ACTB
Familial gastric cancer and CLP — CDH1
Craniofrontonasal — EFNB1
Roberts — ESCO2
Holoprosencephaly — GLI2
Hydrolethalus — HYLS1
Van der Woude/popliteal pterygium — IRF6
Xlinked mental retardation and CL/P — PHF8
Gorlin — PTCH1
CLP, ectodermal dysplasia — PVRL1
Holoprosencephaly — SHH
Holoprosencephaly — SIX3
Branchiooculofacial — TFAP2A
Holoprosencephaly — TGIF1
Ankyloblepharonectodermal dysplasiaclefting — TP63
Tetraamelia with CLP — WNT3
Cleft palate only (CP)
Oculofaciocardiodental — BCOR
Lethal and Escobar multiple pterygium — CHRNG
Stickler type 1 — COL2A1
Stickler type 3 — COL11A2
Desmosterolosis — DHCR24
Smith–Lemli–Opitz — DHCR7
Miller — DHODH
Craniofrontonasal — EFNB1
Crouzon — FGFR2
Apert — FGFR2
Otopalatodigital types 1 and 2 — FLNA
Hereditary lymphedemadistichiasis — FOXC2
‘Orofacialdigital’ — GLI3
Van der Woude/popliteal pterygium — IRF6
Andersen — KCNJ2
Kabuki — MLL2
Cornelia de Lange — NIPBL
Xâ��linked mental retardation — PQBP1
Isolated cleft palate — SATB2
Diastrophic dysplasia — SLC26A2
Campomelic dysplasia — SOX9
Pierre Robin — SOX9
DiGeorge — TBX1
Treacher Collins — TCOF1
Midline cleft lip
Opitz G/BBB — MID1
Orofacialdigital type I — OFD1

Table 1: Cleft associated syndromes in which the mutated gene has been identified [6]

A variety of genetic polymorphisms have been studied in population based association studies and candidate genes studies. Results have suggested a role for genes responsible for growth factors (e.g. TGFa, TGFß3), transcription factors (e.g. MSX1, IRF6, TBX22), factors which influence xenobiotic metabolism (e.g. CYP1A1, GSTM1, NAT2), nutrient metabolism (e.g. MTHFR, RARA), and immune response (e.g. PVRL1, IRF6). TGFa and MTHFR genes have been amongst the most widely investigated variants over the years. A comprehensive survey of chromosomal deletions and duplications was done to identify phenotypes significantly associated with particular partial aneuploidies. Regions that were significantly associated with clefts were identified at 1q25, 3p21, 4p15, 4q32 and 10p15. The 4p15 region is of particular importance in that it contains the MSX1 homeobox gene that is also the site of deletions causing the Wolf–Hirschhorn syndrome, which is commonly associated with orofacial clefting as well. Although extensively studied, due to factors such as the genetic heterogeneity, departure from Mendelian inheritance patterns, the limited availability and high cost of genomic tools, and the necessity for very large data sets, the exact genetic association, especially in non-syndromic OFC cases, remains poorly characterized [6-14].

Most of the OFC epidemiologic studies support a role for environmental factors in the etiology of clefting. The most common risk factors reported were maternal exposure to tobacco products, alcohols, nutritional deficiencies, some viral infections, medications, and teratogens in the workplace or at home in early pregnancy. Recognized teratogens included rare exposures such as phenytoin, valproic acid, thalidomide, and herbicides such as dioxin. Suggested gene-environment interactions are listed in Table 2 [14-22].

Gene-environment interaction in cleft lip and palate

Table 2: Currently reported gene-environment interaction in cleft lip and palate [13].

Some Key Epidemiological Findings

The incidence and the geographic distribution of OFC varies tremendously around the world due to differences in birth prevalence as well as the deficiencies in recording of births and birth defect surveillance systems, particularly in many parts of the developing world. Worldwide, there is a six-fold variation in the prevalence at birth of cleft lip with or without cleft palate (CL/P), and a three-fold variation in the prevalence at birth of cleft palate as reported by the IPDTOC Working Group, 2011. Native Americans show the highest incidences at 3.74 per 1000 live births, whereas a fairly uniform incidence of 1:600 to 1:700 live births is reported among Europeans. The incidence appears high among Asians (0.82-4.04 per 1000 live births), intermediate in Caucasians (0.9-2.69 per 1000 live births) and low in Africans (0.18-1.67 per 1000 live births). Comparisons between the ethnic groups within the US and the UK related to the immigrants from Asia and China indicated that immigrants reports OFC rates closer to their original region. African Americans reported lower prevalence than whites in the US. Although data from African countries are sparse, the available evidence indicates low prevalence rates for OFCs [23-26].

Isolated CL comprises about 25% of all clefts, while combined CL/P accounts for about 45%. CL/P occurs more frequent and more severe in boys than in girls. Unilateral clefts are more common than bilateral clefts with a ratio of 4: 1, and for unilateral clefts, about 70% occur on the left side of the face. CL/P is frequently associated with other developmental abnormalities and majority of cases are presented as part of a syndrome. Syndromic clefts account for about 50% of the total cases in some reports with about 300 syndromes described. Although the percentage of cases directly linked to genetic factors is estimated to be about 40%, all clefts appear to show a familial tendency. Table 3 demonstrates the estimated birth prevalence by Global Burden of Disease (GBD) region and Figure 1 shows the EUROCAT registries data aggregated by country. It was reported that there is more than 2 to 3 fold difference in prevalence of non-syndromic, OFCs in different European parts. This ranged between 2/1,000 in Northern Europe to 1/1,000 in Italy [26-28].

GBD regionTotal OFCs/1 ,000CP/1 ,000CL/P/1 ,000CP, % of total
Latin America, Southern2.390.721.6730
Latin America, Tropical2.390.721.6730
North America, High Income2.000.831.1741
Europe, Western1.660.591.0735
Asia Pacific, High Income1.650.641.0039
Asia, South1.600.301.3019
Latin America, Central1.540.391.1525
Europe, Central1.450.670.7747
Asia Southeast1.360.281.0820
Latin America, Andean1.290.171.1213
Asia, East1.280.271.0121
Europe, Eastern1.220.590.6349
Asia, Central1.190.620.5752
Middle East1.020.300.7229
Sub-Saharan Africa, Central0.540.040.517
Sub-Saharan Africa, West0.540.080.4615
Sub-Saharan Africa, Southern0.450.150.3033
North Africa0.440.150.2935
Sub-Saharan Africa, East0.380.120.2731

Table 3: Estimated birth prevalence of OFCs by GBD region [26].

There is always a problem of underreporting of OFC cases. As congenital abnormalities, they should be recorded on the birth certificates, but up till now, there is no national or international standardized protocol for this procedure. Pediatricians and nurses in the delivery room are responsible on examining the newborn and thus are expected to report any anomalies and describe them on the medical record. Misdiagnosed and undiscovered cases greatly contribute to the underreporting. A clear example for those cases are the submucous clefts, in which an intact mucosal surface covers the palatal cleft, often goes unnoticed at birth and is only discovered later when patients develop hypernasal speech. Another dilemma in the reporting of OFCs is that some studies include all births in the rate calculations while others include only live births. Since clefts are more frequent among stillborn and spontaneously aborted infants, their inclusion in the denominator impact the results significantly [29-31].

The IPDTOC Working Group, 2011 have summarized the conclusions of all recent epidemiologic data on OFC as follows [32,33]:

•There is ample evidence of the distinctly different nature of CL/P and CP, and emerging evidence of distinct differences in subgroups within these overall conditions.

•There is significant geographical variation, which is more apparent for CL/P than for CP. There is considerable variation in the proportion of OFC cases with additional congenital anomalies and syndromes.

•There is no consistent evidence of time trends, nor is there consistent variation by SES or seasonality, but these areas have not been adequately studied. There is a need to investigate such parameters within as well as between different populations.

•There is considerable international variation in the frequency of OFCs, but validity and comparability of data are adversely affected by numerous factors, among which are: source population of births considered (hospital vs. population), time period, method of ascertainment, inclusion/exclusion criteria, and sampling fluctuation.

•There is little or no information on the frequency of OFCs for many parts of the globe, including parts of Africa, Asia, and Eastern Europe

Prevention and Intervention Strategies

Prevention should be considered the ultimate objective for OFCs. Extensive research on the exact etiology, successful implementation of prenatal vitamins and folic acid preventive strategies, together with improvements in surgical procedures, dental and orthodontic interventions, speech pathology, social and psychological support, pediatric care, and all other fields involved in the care of the child with OFC provides a hope for a better quality of care for those children.

Several epidemiological and observational reports have indicated a protective effect of prenatal use of multivitamins and folic acid on incidence of clefts. A decrease in CL/P risk with supplements containing folic acid has ranged from 18% to 50% in humans and from 69% to 76% in experimental animals. Low maternal B6 and B12 levels measured after pregnancy was reported to increase the risk of CL/P especially in cases associated with low serum folate. Animal studies have also confirmed the anti-teratogenic effects of prenatal folic acid supplementation and dietary folate [34-36].

Treatment of CL/P is complex in nature. It requires an extreme multidisciplinary collaboration committed to managing the patient from birth to maturity. The available evidence suggests that there is a strong relationship between positive treatment outcome and the availability of centralized care by a high quality dedicated team. Diagnosis of OFC is currently possible from about 17 weeks intrauterine because of the advances in ultrasound scanning techniques; however, most of the cases are only diagnosed after birth. Services and treatment options for infants with CL/P generally vary depending on the severity of the cleft, the child’s age and medical condition, and the association with other anomalies or syndromes. In high-income settings, the surgery to repair the defect is usually planned in the first few months of life and is recommended before the age of 12-18 months. Most of the cases also require additional surgical interventions later in life. Surgical repair results in correction of the facial deformity as well as improving the feeding, speech, breathing, and hearing problems. Children later require special dental or orthodontic care, speech therapy, as well as social and psychological services. The optimal management protocol entails a range of services that need to be provided in a coordinated manner from birth into adolescence and sometimes adulthood stages [35-39].

In developing parts of the world, management of OFC patients exemplifies the health disparities and inequality. One obvious factor is the numbers of patients. Out of the estimated 250,000 child born each year with OFC, the majority are born in developing countries. The inequality is further complicated by the fact that most of them are born in rural areas where medical care is usually substandard. Most of the available reports suggest that in absence of any intervention, mortality due to OFC is very high. A study investigating tribal areas in rural India found that 'children born with cleft deformities all died within a few days of birth - they had been put to the breast but since they could not suckle they died of starvation. Spoon-feeding was unheard of and there were no visiting doctors or health workers to tell parents how to feed the infants’. A study has even indicated that in some parts of rural India, it was suspected that the birth of an infant with a highly disfiguring congenital malformation leads to “purposeful neglect”. This is also expected to be the case in other similar parts of the world where there is ample poverty and deprivation levels such as in the Sub-Saharan Africa region [28,40,41].

Cleft lip and cleft palate can have a significant impact on the health economics of countries around the world. The substantial numbers of surgical procedures that are performed each year and the complexity of the skills required to complete these procedures safely and effectively clearly presents a major burden especially in low-income countries. When surgical interventions are inaccessible, facial deformities become lifelong disabilities, exerting additional burden not only on the individual and his surroundings but on the society and the country [42].

The Disability-adjusted life years (DALYs) debuted by the World Development Report have become the health metric of choice used to measure the mortality and physical impairment associated with an illness. It compares the cost effectiveness of competing health priorities by combining the years of life lived in a disabled health state with the number of years lost from a disease or injury. It was estimated that about 11% of the global burden of disease is caused by surgical conditions. Of this, 9% are thought to be associated with congenital anomalies. Several cost-effectiveness studies who analyzed OFC surgeries performed by the Smile for Children volunteer surgical mission team for children in developing countries indicated that the average cost of the repair surgery was in the range of $56 to $97 which is considered, based on the currently accepted international criteria, “highly cost-effective”. This claim was based on an estimate of the cost per DALY averted for OFC surgery which proved to be even less than the estimates of cost per DALY averted for a number of other standard public health programs and on the fact that the cost per DALY averted through OFC surgery is within the range of cost-effectiveness defined by the World Health Organization (WHO) and the World Bank [43,44].

In conclusion, OFCs impact a considerable proportion of the global society. It affects around 1.5 per 1,000 live births (about 220,000 new cases per year), with wide variation across geographic areas and ethnic groups, with substantial evidence of both health inequality and inequity. The global burden incurred from OFCs in terms of physical morbidity, health care expenses, emotional distress, and social dysfunction are significant for affected individuals, their families, and over all the society. There is also substantial variation both within and between countries. Globally, extensive research on the exact etiological factors and epidemiological data is still required to explore the most applicable attempts to decrease the burden of the disease and to improve the quality of care provided for the affected individuals.


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Figure 1: Prevalence of CL/P in Europe [29].

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What is cleft lip and cleft palate?

We all start out life with a cleft lip and palate. During normal fetal development between the 6th and 11th week of pregnancy, the clefts in the lip and palate fuse together. In babies born with cleft lip or cleft palate, one or both of these splits failed to fuse.

A “cleft” means a split or separation; the palate is the “roof” of the mouth. A cleft palate or lip then is a split in the oral (mouth) structure. Physicians call clefting a “craniofacial anomaly.” A child can be born with both a cleft lip and cleft palate or a cleft in just one area. Oral clefts are one of the most common birth defects.

Clefts in the lip can range from a tiny notch in the upper lip to a split that extends into the nose. A cleft palate can range from a small malformation that results in minimal problems to a large separation of the palate that interferes with eating, speaking, and even breathing. Clefts are often referred to as unilateral, a split on one side, or bilateral, one split on each side. There are three primary types of clefts:

  • • Cleft lip/palate refers to the condition when both the palate and lip are cleft. About one in 1,000 babies are born with cleft lip/palate.
    • About 50 percent of all clefts
    • More common in Asians and certain groups of American Indians
    • Occurs less frequently in African Americans
    • Up to 13 percent of cases present with other birth defects
    • Occurs more often in male children

  • • Isolated cleft palate is the term used when a cleft occurs only in the palate. About one in 2,000 babies are born with this type of cleft (the incidence of submucous cleft palate, a type of isolated cleft palate, is one in 1,200).
    • About 30 percent of all clefts
    • All racial groups have similar risk
    • Occurs more often in female children

  • • Isolated cleft lip refers to a cleft in the lip only accounting for 20 percent of all clefts.
What causes clefts?

No one knows exactly what causes clefts, but most believe they are caused by one or more of three main factors: an inherited characteristic (gene) from one or both parents, environment (poor early pregnancy health or exposure to toxins such as alcohol or cocaine), and genetic syndromes. A syndrome is an abnormality in genes on chromosomes that result in malformations or deformities that form a recognizable pattern. Cleft lip/palate is a part of more than 400 syndromes including Waardenburg, Pierre Robin, and Down syndromes. Approximately 30 percent of cleft deformities are associated with a syndrome, so a thorough medical evaluation and genetic counseling is recommended for cleft patients.

How is a cleft diagnosed?

Clefting of the lip and palate is usually visible during the baby’s first examination. One exception is a submucous cleft where the palate is cleft, but remains covered by smooth, unbroken lining of the mouth. A child with cleft lip or palate is often referred to a multidisciplinary team of experts for treatment. The team may include: an otolaryngologist (ear, nose, and throat specialist), plastic surgeon, oral surgeon, speech pathologist, pediatric dentist, orthodontist, audiologist, geneticist, pediatrician, nutritionist, and psychologist/social worker.

How are clefts treated?

Treatment of clefts is highly individual, depending on the overall health of the child and the severity and location of the cleft(s). Multiple surgeries and long-term follow-up are often necessary. Because clefts can interfere with physical, language and psychological development, treatment is recommended as early as possible. Surgery to repair a cleft lip is usually done between 10 and 12 weeks of age. A cleft palate is repaired through a procedure called palatoplasy, which is done between nine and 18 months. Additional surgeries are often needed to achieve the best results. In addition to surgery, the child may receive follow-up care from members of the multidisciplinary team on issues of speech, hearing, growth, dental, and psychological development.

What are the complications of clefts?

The complications of cleft lip and cleft palate can vary greatly depending on the degree and location of the cleft. They can include all or some or all of the following:

Breathing: When the palate and jaw are malformed, breathing becomes difficult. Treatments include surgery and oral appliances.

Feeding: Problems with feeding are more common in cleft children. A nutritionist and speech therapist that specializes in swallowing may be helpful. Special feeding devices are also available.

Ear infections and hearing loss: Any malformation of the upper airway can affect the function of the Eustachian tube and increase the possibility of persistent fluid in the middle ear, which is a primary cause of repeat ear infections. Hearing loss can be a consequence of repeat ear infections and persistent middle ear fluid. Tubes can be inserted in the ear by an otolaryngologist to alleviate fluid build-up and restore hearing.

Speech and language delays: Normal development of the lips and palate are essential for a child to properly form sounds and speak clearly. Cleft surgery repairs these structures; speech therapy helps with language development.

Dental problems: Sometimes a cleft involves the gums and jaw, affecting the proper growth of teeth and alignment of the jaw. A pediatric dentist or orthodontist can assist with this problem.

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