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INTRODUCTION
Craniofacial anomalies, and in particular cleft lip and palate, are major human birth
defects with a worldwide frequency of 1 in 700 and substantial clinical impact. A wide range
of studies in developmental biology has contributed to a better knowledge of how both genes
and environmental exposures impact head organogenesis.
Specific causes have now been identified for some forms of cleft lip and palate, and we
are at the beginning of a time in which the common nonsyndromic forms may also have
specific etiologies identified. Mouse models have an especially important role in disclosing
cleft etiologies and providing models for environmental cotriggers or interventions. An
overview of the gene environment contributions to nonsyndromic forms of clefting and their
implications for developmental biology and clinical counseling is presented. (Murray JC,
Clin Genet, 2002)
Craniofacial anomalies comprise a significant morbid human birth defect. They require
surgical,nutritional, dental, speech, medical, behavioral intervention and impose a substantial
economic burden. Cleft lip and palate affect about 1/700 births with wide variability related
to geographic origin and status economic status. In general, Asian and American have the
highest frequency, often at 1/500 or higher, with Caucasian population intermediate, and
African-derived population at the lowest 1/2500. There are some exceptions to these
summaries, however, with some having higher frequency thoughts to be related to founder
effects or environment trigger.
The complex etiology of clefting affords ample of opportunity to identify genes and
gene environment interactions and to learn more about embryology and its disturbances.
Furthermore, following these general rules, cleft are most often discussed as either those that
involve with the lip or without the palate (CL/P) or those that involve the palate only
(CPO).In addition, clefts are divided into nonsyndromic and syndromic forms. In syndromic
clefts, the individuals have no other physical or development abnormalities. Most studies
suggest that about 70% cases of CL/P and 50% of CPO are non-syndromic. The syndromic
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CHAPTER II
CLEFT LIP AND CLEFT PALATE
2.1 Definition
Cleft lip and cleft palate is a congenital fissure, or split of the lip or of the roof of the mouth,
one or the occurs in about one birth per thousand. Sometimes they are associated with
clubfoot or other anatomic defects. They have no connection with mental retardation.
Although poor health of the mother during pregnancy may have some effect on the
development of her child, the old superstition that psychological experience of the pregnant
mother can cause cleft palate and cleft lip has no scientific basis. However, it is true that
parents who were born with cleft palate and or cleft lip are somewhat more likely than other
parents to have children with these defects. (Mosby, 2009)
2.2 Classification
Cleft palate and cleft lip may occur independently of each other or at the same time. The
terms below are often used to describe and classify cleft lip and cleft palate and to describe a
cleft more precisely. In general, it is divided into soft palate and hard palate.
The basic classification of the cleft palate, it is located at the anterior position of the roof
of the mouth. Meanwhile, the basic classification of cleft lip, is the posterior part of the roof
of the mouth. Cleft lip is classified according to its location and severity:
Unilateral (on one side of the lip): The unilateral cleft may cause the nostril on that
side to be tilted and lower than the other nostril.
Bilateral (on two sides of the lip): The bilateral cleft may cause the nose to be
broader and shorter than normal.
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Most clefts involve only one side of the upper lip. They rarely occur in the lower lip. If
cleft lip occurs with cleft palate, the upper alveolar ridges, which are where the teeth sit, are
also involved. Complete classification of a cleft palate combines all of the appropriate terms.
For example, a cleft of the hard palate with an incomplete unilateral cleft lip is a cleft in the
front of the mouth and a cleft in one side of the upper lip that doesn't extend to the nose.
Meanwhile, a cleft of both the hard and soft palate with bilateral complete cleft lip describes
a cleft that extends from the soft palate to the hard palate, and includes the alveolar ridge.
Both sides of the lip have clefts extending to the nose. (John Pope, Brian OBrien, 2012)]
2.2.1 Cleft lip
This group involves the clefts affecting the lip with or without affecting the alveolar ridge and
may be unilateral, bilateral or median. Concerning the extent, the defects range from a mild
notch in the lip vermillion, called a cicatricial cleft, up to complete involvement of the lip and
alveolar ridge, reaching the incisive foramen, when it is considered complete. Thus, inclusion
or not of the entire extent of the alveolar ridge defines it as complete or incomplete. In cases
classified as complete cleft lip, the cleft affects the lip and alveolar ridge reaching the incisive
foramen. In cases classified as incomplete cleft lip, the cleft affects only the lip without
involving the alveolar ridge
2.2.2 Complete cleft lip and palate
According to the classification, this type of cleft completely involves the lip, alveolar ridge
and palate, i.e. the cleft crosses the incisive foramen, and may be unilateral, bilateral or
median
2.2.3 Cleft palate
This group includes only cleft palate. This type of cleft involves the palate in different
extents, totally or partially, also being described as complete or incomplete according to the
extent of the cleft palate
2.2.4 Rare facial clefts
This group comprises the rare facial clefts, which not necessarily involve the incisive
foramen, usually occurring distant from the areas of formation of the primary and secondary
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palate. They are also defined as atypical clefts because they involve other facial structures
other than the lip and/or palate, such as the oro-ocular cleft, unilateral and/or bilateral
macrostomia, cleft of the lower lip, mandibular cleft, palpebral cleft and oblique cleft, besides
others.
In general, the severity of clefts depends on the severity of aggression to the normal
embryonic development. The smaller interferences lead to occurrence of incomplete clefts,
and the milder are called cicatricial cleft for the lip, affecting only the lip vermillion, and
submucous cleft for the palate. All levels of severity are possible among complete and
incomplete clefts, so as there are large variations in the quantity of tissue deficiency and
consequently in the configuration of clefts.
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2.3 Etiology
A cleft lip or palate happens when the structures that form the upper lip or palate fail to fuse
together properly when a baby is developing in the womb. In most cases the exact cause is
unknown, but it's thought to be a combination of genetic (internal) and environmental
(external) factors.
2.3.1 Inherited genes
Research indicates that the genes a child inherits from their parents make them more
vulnerable to developing a cleft lip or palate. A number of genes have been identified that
may be responsible. In some cases there is a family history of clefts, although most children
of parents with clefts will not develop them.
2.3.2 Environmental risk factors
A number of things have been identified that may increase a child's chance of being born with
a cleft lip or palate. These are outlined below.
a) Lack of folic acid during pregnancy
All pregnant women are advised to take a daily supplement of folic acid during the first four
months of pregnancy. Folic acid helps reduce the possibility of birth defects. One study found
that the risk of having a child born with cleft lip or palate was more than four times higher if
mothers did not take folic acid in the first three months of pregnancy.
b) Smoking
A mother who smokes during pregnancy increases her baby's chance of being born with a
cleft. The risks from passive smoking are not fully known, but it is a good idea to avoid
breathing in high levels of secondhand smoke.
c) Alcohol consumption
Some studies have shown a link between a mother's alcohol consumption during pregnancy
and the development of a cleft lip or palate in her baby.
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lip
and
palate.
For
an
example,
methotrexate,
medicine
used
to
treat cancer, arthritis and psoriasis, isotretinoin, a medicine used to treat acne, anti-seizure
medicine
2.3.3 Pierre Robin syndrome
Pierre Robin syndrome is a rare condition where a baby is born with an abnormally small
lower jaw, which causes the tongue to fall backwards in their throat (glossoptosis). This can
result in obstruction and breathing difficulties. Most infants with Pierre Robin syndrome will
also have a cleft palate. The cleft can usually be repaired with surgery, although treatment
may be delayed if there are continuing issues with airway obstruction. The lower jaw usually
has some 'catch-up' growth later and orthodontic treatment can further help the bite. ( Am J
Hum Genet, FC Fraser, 2007)
2.4 Pathogenesis
The embryological development of the upper lip and nose requires a sequence of
complex, genetically programmed events. This involves fusion of the 5 major facial
prominences, occurring between the 3rd and 8th week of gestation, with lip development
between the 3rd and 7th weeks, and palate development between the 5th and 12th weeks.
The complexity of this cranio-facial developmental pathway and the numerous
developmental points at which clefting could be induced is reflected in the heterogeneity of
the phenotypic expression of the condition. Cleft lip and/or palate: the maxillary, medial
nasal, and lateral nasal prominences converge through a complicated process of epithelial
bridging, programmed cell death, and subepithelial-mesenchymal penetration. Left lip and/or
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Cleft lip can occur as a unilateral (on the left or right side) or as a bilateral anomaly. The
line of cleft always starts on the lateral part of the upper lip and continues through the
philtrum to the alveolus between the lateral incisor and the canine tooth, following the line of
sutura incisiva up to the foramen incisivum. The clefting anterior to the incisive foramen such
as lip and alveolus is also defined as a cleft primary palate. Cleft lip may occur with a wide
range of severity, from a notch located on the left or right side of the lip to the most severe
form, bilateral cleft lip and alveolus that separates the philtrum of the upper lip and
premaxilla from the rest of the maxillary arch. A cleft lip can range from microform cleft lip
which is a small notch in the red part of the upper lip to complete bilateral cleft lip which is
two wide gaps in the upper lip and a collapsed and stretched nose. The muscle, skin and
lining of the lip are missing in the gap of a cleft. They are in the wrong place on each side of
the cleft and distort the nearby tissues. The nose, or nostril, is stretched as a result of the pull
of the abnormal attachments of the muscles on each side of the cleft. A cleft palate can only
be seen when the baby's mouth is open. It is a gap along the middle of the roof of the mouth.
When you look at a cleft palate through the mouth, you are looking up into the nose. This
explains why infants with cleft lip and palate often have a hard time feeding at first. Milk
often comes out of the baby's nose while eating. But with the right technique and help they
can learn to feed very well. Nurses and infant feeding specialists offer detailed feeding
instructions and support for new parents of babies with cleft lip and palate. Cleft palate is a
condition in which the two plates of the skull that form the hard palate (roof of the mouth) are
not completely joined. The soft palate is in these cases cleft as well. In most cases, cleft lip is
also present. Cleft palate occurs in about one in 700 live births worldwide. Palate cleft can
occur as complete (soft and hard palate, possibly including a gap in the jaw) or incomplete (a
'hole' in the roof of the mouth, usually as a cleft soft palate). When cleft palate occurs,
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the uvula is usually split. It occurs due to the failure of fusion of the lateral palatine
processes, the nasal septum, and/or the median palatine processes is the formation of
the secondary palate. The hole in the roof of the mouth caused by a cleft connects the mouth
directly to the nasal cavity. Less commonly, a cleft occurs only in the muscles of the soft
palate which are at the back of the mouth and covered by the mouth's lining. (Parker,
Canfield, Rickard, Meyer, Mason, 2010)
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provided at this visit should include a general description of the types of problems the baby
may encounter. (Hanikeri, Sayundra, Gillete, Walters, 2006)
When a neonate with a cleft is born, a pediatrician has 3 major concerns, as will be explained
below. First and foremost, is the risk of aspiration because of communication between oral
and nasal cavities. Secondly, the airway obstruction, in addition to sequelae of aspiration,
especially in Robin sequence in which the cleft palate [CP] is combined with micrognathia
and the tongue has a normal size. Last but not least, the neonatals difficulties with feeding of
a child with a cleft and nasal regurgitation. These 3 factors are influenced by the presence of
other major or minor anomalies that may, in association with a cleft, represent 1 of 300
known cleft syndromes. The treatment process of cleft lip and/or palate (CL/P) is long and
complex. It begins in early life and continues through late adolescence or even into
adulthood. As early as a few weeks of age, surgery is performed to close the lip, followed by
another procedure between 6 and 12 months of age to close the palate as appropriate. After
these primary surgeries, several secondary surgeries are usually required to improve function
and appearance.
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2.7.1
The vast majority of children with cleft lip and palate (CLP) anomalies are born with a
normal birth weight. However, because of feeding and other difficulties mentioned above, the
most common problem the pediatrician has to deal with is insufficient weight gain. One of
the pediatrician's main responsibilities is to closely monitor the infant's weight. Pediatricians
may supervise mothers themselves or may refer them to a nutritionist, feeding specialist,
experienced nurse practitioner, or other specialist. Most children born with cleft lip and palate
are unable to be breastfed. Those with cleft palate cannot produce the negative pressure
necessary for suction. Mothers of children with a unilateral cleft lip may succeed with
breastfeeding when the child is positioned so that the cleft in the lip is obstructed by the
mother's breast.
2.7.2
No single treatment concept has been identified, especially for a cleft lip and palate. The
timing of the individual procedures varies in different centers and with different specialists.
Below is the most common treatment protocol presently used in most cleft treatment centers:
Age 3 months - Repair of cleft lip and also the placement of ventilation tubes
Children with a cleft palate may also need a bone graft when they are about 8 years old to
fill in the upper gum line so that it can support permanent teeth and stabilize the upper jaw.
About 20% of children with a cleft palate require further surgeries to help improve their
speech. Once the permanent teeth grow in, braces are often needed to straighten the teeth.
(Grayson, Cutting, 2001)
2.7.3
Surgical Therapy
Undoubtedly, closure of the cleft lip is the first major procedure that tremendously changes
children's future development and ability to thrive. Variations occur in timing of the first lip
surgery; however, the most usual time occurs at approximately age 3 months. Pediatricians
used to strictly follow a rule of "three 10s" as a necessary requirement for identifying the
child's status as suitable for surgery, for an example, 10 lb, 10 mg/L of hemoglobin, and age
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10 week. Although pediatricians are presently much more flexible, and some surgeons may
well justify a neonatal lip closure, considering the rule of three 10s is still very useful.
(Lossee, Kirchner 2008)
Anatomical differences predispose children with cleft lip and palate and with isolated cleft
palate to ear infections. Therefore, ventilation tubes are placed to ventilate the middle ear and
prevent hearing loss secondary to otitis media with effusion. In multidisciplinary teams with
significant participation of an otolaryngologist, the tubes are placed at the initial surgery and
at the second surgery routinely. The hearing is tested after the first placement when ears are
clear with tubes. If no cleft surgery is planned early, placing the tubes by age 6 months and
monitoring hearing with repeated testing is recommended. Complications include eardrum
perforation and otorrhea, particularly in patients with open secondary palates in which
closure is planned for later.
The most common surgical procedures for a child with a cleft lip and palate anomaly are as
follows:
Palatal lengthening
Pharyngeal flap
Pharyngoplasty
Columellar lengthening
Surgery-related orthodontics
o
Early management (since birth until the time of surgical closure of the palate)
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2.8 Complications
2.8.1 Psychological impact in children
A cleft can also have a psychological impact on a child, particularly as they get older and
begin to mix with other children. Experts advise explaining the condition to your child as
soon as they are old enough to understand. Treat it as a normal topic of conversation. The
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clinical psychologist in the team will be able to give further support with this. (Nelson PA,
2011)
2.8.2 Feeding problems
Babies with a cleft may have problems feeding, particularly if the cleft includes the palate, as
the baby may not be able to suck adequately. However, feeding can usually be established
quickly with assistance and sometimes the use of a special bottle.
2.8.3 Hearing
Children with a cleft palate often develop a condition called glue ear, where sticky fluid
collects in the middle ear behind the eardrum. This may reduce their level of hearing and can
sometimes cause ear infections. It is therefore important that all children with a cleft palate
have their ears and hearing checked regularly by an audiologist.
2.8.4 Dental health
A cleft lip and palate can cause changes to the structure of the mouth and lead to problems
with the development of teeth, making children more vulnerable to tooth decay. It is therefore
important for the child to have their teeth checked regularly and practice good oral hygiene.
2.8.5 Speech and language impairment
The roof of the palate plays an important role in helping your child form sounds for speech. If
a cleft palate is not repaired with surgery, it will lead to speech problems when the child is
older. The cleft palate is therefore carefully repaired before speech development starts and in
many cases the child goes on to develop normal speech. About half of all children with a
repaired cleft palate will need speech therapy, and a small number may need further surgery.
Over time, a specialist speech and language therapist will monitor the child's speech
development.
CHAPTER III
CONCLUSION
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Prevalence rates reported for live births for cleft lip with or without cleft palate and
cleft palate alone varies within different ethnic groups. It caused about 4,000 deaths globally
in 2010 down from 8,400 in 1990.
In general, the treatment of craniofacial anomalies depends on a highly specialized
rehabilitation and is initiated early, involving several medical, dental and related specialties.
When not treated, cleft lip and palate may have an impact on several important areas for the
integration in society. Thus, the rehabilitation aims not only to allow this integration for
individuals, but to provide their full social inclusion ( Werler MM, Ahrens KA, Bosco JL,
Michell AA, Anderka MT, Gilboa SM, Holmes, 2011)
Furthermore, the rehabilitation process comprises these healthcare actions described in
this paper for the assistance to people with cleft lip and palate. All this process involves the
action of a multidisciplinary team in a relationship of reciprocity, mutuality and dialogue. The
collaboration between different areas is fundamental in this relationship after a baby is born
with a cleft, parents are understandably concerned about the possibility of having another
child with the same condition.
Several precautions, can be taken to avoid the chances of getting cleft lip and cleft palate,
such as consider genetic counseling. If you have a family history of cleft lip and cleft palate,
tell your doctor before you become pregnant. Your doctor may refer you to a genetic
counselor who can help determine your risk of having children with cleft lip and cleft palate.
Besides that, mothers should consume prenatal vitamins. Taking a multivitamin before
conceiving and during pregnancy may help reduce the risk of birth defects, such as cleft lip
and cleft palate. If you're planning to get pregnant soon, begin taking a prenatal multivitamin
now. Last but not least, is to avoid consuming any form of intoxication, such as alcohol and
tobacco. Use of alcohol or tobacco during pregnancy increases the risk of having a baby with
a cleft defect. (Honein, Rasmussen, Reefhuis J, Romitti , Lammer, 2007)
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