 INTRODUCTION:

Cleft lip and cleft palate are congenital malformations of face resulting from the failure of fusion of 1 st
branchial arch during intrauterine development. The complete formation of lip often occurs by 5 to 12
weeks, where as the formation of palate may occur only by 12 to 14 weeks of gestational age. These
conditions are usually detected at birth and may be associated with other congenital anomalies in about 20
% of cases. This may involve the CNS anomalies or cardiovascular and skeletal malformations. Cleft lip
and palate may occur as single or in combination. It may be unilateral or bilateral.
 INCIDENCE:

Cleft lip and palate occur in about 1 to 2 per 1000 births in the developed world.

Rates for cleft lip with or without cleft palate and cleft palate alone varies within different ethnic groups.
The highest prevalence rates for cleft lip, either with or without cleft palate are reported for Native
Americans and Asians. Africans have the lowest prevalence rates.

 Native Americans: 3.74/1000

 Japanese: 0.82/1000 to 3.36/1000
 Chinese: 1.45/1000 to 4.04/1000
 Caucasians: 1.43/1000 to 1.86/1000
 Latin Americans: 1.04/1000
 Africans: 0.18/1000 to 1.67/1000

Cleft lip and cleft palate caused about 3,800 deaths globally in 2017, down from 14,600 deaths in 1990.

 CLEFT LIP:
Also known as Hare lip which results from failure of the maxillary process to fuse with nasal elevations or
frontal prominence. The extent of cleft lip varies from a notch in the vermillion border to a large cleft
reaching the floor of the nose. It is apparent at birth as incomplete formation of lip. It may be associated
with cleft palate and supernumerary, deformed or absent teeth. It may be found unilateral or bilateral.

 CLEFT PALATE:
It results from failure of masses of lateral palatine processes to meet and fuse together. It may be unilateral
or bilateral or may occur in isolation or with cleft lip. Cleft palate in isolation may be found in the midline
involving only uvula or reaches the incisive foramen through soft palate.
In association with cleft lip, it involves soft palate and exposes the nasal cavity on one or both sides
depending upon the defect. Cleft palate is found as an opening or elongated opening or fissure in the roof of
the mouth, which should be detected during routine neonatal examination.

A result of an open connection between the mouth and inside the nose is called velopharyngeal
insufficiency (VPI). Because of the gap, air leaks into the nasal cavity resulting in a hyper-nasal voice
resonance and nasal emissions while talking. Secondary effects of VPI include speech articulation errors
(e.g., distortions, substitutions, and omissions) and compensatory misarticulations and mispronunciations
(e.g., glottal stops and posterior nasal fricatives). Possible treatment options include speech therapy,
prosthetics, augmentation of the posterior pharyngeal wall, lengthening of the palate, and surgical
procedures.

Submucous cleft palate can also occur, which is a cleft of the soft palate with a split uvula, a furrow along
the midline of the soft palate, and a notch in the back margin of the hard palate. The diagnosis of
submucous cleft palate often occurs late in children as a result of the nature of the cleft. While the muscles
of the soft palate are not joined, the mucosal membranes covering the roof of the mouth appear relatively
normal and intact.

 EMBRYONIC DEVELOPMENT OF FACE, LIPS AND PALATE:

The palate anatomically separates the nasal cavity from the oral cavity and structurally has a bony (hard)
anterior component and a muscular (soft) posterior component ending with the uvula. Neural crest has a
major contribution to the palate development and there are a number of molecular, mechanical and
morphological steps in involving the fusion of contributing structures including a key epithelial to
mesenchymal transition.

In palate formation there are two main and separate times and events of development, during embryonic
(primary palate) and an early fetal (secondary palate). This separation of events into embryonic and fetal
period corresponds closely to the classification of associated palate abnormalities.

The primary palate is formed by two parts:

1. Maxillary components of the first pharyngeal arch (lateral)

2. Frontonasal prominence (midline)

The secondary palate can also be divided in two anatomical parts:

1. Anterior hard palate - ossified (contributions from the maxilla and palatine bones).
2. Posterior soft palate - muscular.

Developmental Overview:

o Week 4 - pharyngeal arch formation, first pharyngeal arch contributes mandible and maxilla.
o Week 6 - 7 - primary palate formation maxillary processes and frontonasal prominence.
o Week 9 - secondary palate shelves fuse, separating oral and nasal cavities.
Frontonasal Process:
The frontonasal process (FNP) forms the majority of the superior part of the early face primordia. It later
fuses with the maxillary component of the first pharyngeal arch to form the upper jaw. Failure of this fusion
event during the embryonic period leads to cleft lip.

 CAUSES:
Genetic Factors

o Most clefts are polygenic and multifactorial in origin with many genetic and environmental factors
contributing. Genetic factors cause clefts in 20% to 50% of the cases and the remaining clefts are
attributable to either environmental factors (such as teratogens) or gene-environment interactions.
The polygenic/multifactorial inheritance model predicts that most individuals will be born without
clefts; however, with a number of genetic or environmental factors, it can result in cleft formation.

o The development of the face is coordinated by complex morphogenetic events and rapid
proliferative expansion, and is thus highly susceptible to environmental and genetic factors,
rationalizing the high incidence of facial malformations. During the first six to eight weeks of
pregnancy, the shape of the embryo's head is formed. Five primitive tissue lobes grow:

 a) one from the top of the head down towards the future upper lip (frontonasal prominence);
 b-c) two from the cheeks, which meet the first lobe to form the upper lip (maxillar prominence);
 d-e) and just below, two additional lobes grow from each side, which form the chin and lower lip
(mandibular prominence).

o If these tissues fail to meet, a gap appears where the tissues should have joined (fused). This may
happen in any single joining site, or simultaneously in several or all of them. The resulting birth
defect reflects the locations and severity of individual fusion failures (e.g., from a small lip or palate
fissure up to a completely malformed face).

o The upper lip is formed earlier than the palate, from the first three lobes named a to c above.
Formation of the palate is the last step in joining the five embryonic facial lobes, and involves the
back portions of the lobes b and c. These back portions are called palatal shelves, which grow
towards each other until they fuse in the middle. This process is very vulnerable to multiple toxic
substances, environmental pollutants, and nutritional imbalance.
o Orofacial clefts may be associated with a syndrome (syndromic) or may not be associated with a
syndrome (non-syndromic). Syndromic clefts are part of syndromes that are caused by a variety of
factors such as environment and genetics or an unknown cause. Non-syndromic clefts, which are
not as common as syndromic clefts, also have a genetic cause.

Specific genes

o Many genes associated with syndromic cases of cleft lip/palate (see above) have been identified to
contribute to the incidence of isolated cases of cleft lip/palate. This includes in particular sequence
variants in the genes IRF6, PVRL1 and MSX1. The understanding of the genetic complexities
involved in the morphogenesis of the midface, including molecular and cellular processes, has been
greatly aided by research on animal models, including of the genes BMP4, SHH, SHOX2, FGF10
and MSX1.

Maternal Factors

o The causes of cleft lip and palate may be due to unfavorable maternal factors. Maternal factors may
be viral infections during 5th to 12th weeks of gestation or ingestion of drugs, exposure to X-ray,
anemia and hypoproteinemia.

o Some forms of maternal hypertension treatment have been linked to cleft lip and palate. Other
environmental factors that have been studied include seasonal causes (such as pesticide exposure);
maternal diet and vitamin intake; retinoids (members of the vitamin A family); anticonvulsant
drugs; nitrate compounds; organic solvents; parental exposure to lead; alcohol; cigarette use; and a
number of other psychoactive drugs (e.g. cocaine, crack cocaine, heroin).

o Current research continues to investigate the extent to which folic acid can reduce the incidence of
clefting. Folic acid alone or in combination with vitamins and minerals prevents neural tube defects
but does not have a clear effect on cleft lip palate incidence. The mechanism behind beneficial
folate supplementation is due to folate playing a pivotal role in DNA synthesis and methylation and
contributes to both development and gene expression.

 TYPES:

o Group I: ( Prealveolar ) - It includes only cleft lip in right or left side or bilateral and rarely in
midline. It can have subtypes; i.e
I-A: It indicates cleft lip and alveolus
I-B: It indicates sub-surface cleft visible with smiling.
o Group II: ( Postalveolar ) – It includes only cleft palate. Submucous cleft may be found or as fistula
or bifid uvula.

o Group III: ( Combined ) – It includes both cleft lip and palate in midline or may be unilateral or
bilateral. Combined types are found more frequently at about 50 % than the isolated cleft lip which
is 25 % and cleft palate which is 25 %.
 COMPLICATIONS:
Immediate Problem:
1. Feeding problem due to ineffective sucking resulting in undernutrition.
2. Aspiration of feeds resulting respiratory infections.
3. Parental anxiety due to defective appearance of the infant.
Long Term Problems:
1. Recurrent infection especially otitis media.
2. Disturbed parent-child relationship and maladjustment with nonacceptance for the infant.
3. Impairment of speech.
4. Malocclusion and malplacement of teeth.
5. Hearing problems due to oral malformation especially in cleft palate.
6. Impaired body image due to altered shape of face and oral cavity.

Psychosocial issues

o There is research dedicated to the psychosocial development of individuals with cleft palate. A cleft
palate/lip may impact an individual's self-esteem, social skills and behavior. Self-concept may be
adversely affected by the presence of a cleft lip or cleft palate, particularly among girls. Negative
outcomes can also be associated with the long durations of hospitalization. Psychological issues
could extend not just to the individual with CLP but also to their families, particularly their mothers,
that experience varying levels of depression and anxiety.

o Research has shown that during the early preschool years (ages 3–5), children with cleft lip or cleft
palate tend to have a self-concept that is similar to their peers without a cleft. However, as they
grow older and their social interactions increase, children with clefts tend to report more
dissatisfaction with peer relationships and higher levels of social anxiety. Experts conclude that this
is probably due to the associated stigma of visible deformities and possible speech impediments.
 o Children who are judged as attractive tend to be perceived as more intelligent, exhibit more positive
social behaviors, and are treated more positively than children with cleft lip or cleft palate. Children
with clefts tend to report feelings of anger, sadness, fear, and alienation from their peers, but these
children were similar to their peers in regard to "how well they liked themselves."

o The relationship between parental attitudes and a child's self-concept is crucial during the preschool
years. It has been reported that elevated stress levels in mothers correlated with reduced social skills
in their children. Strong parent support networks may help to prevent the development of negative
self-concept in children with cleft palate.

o In the later preschool and early elementary years, the development of social skills is no longer only
impacted by parental attitudes but is beginning to be shaped by their peers. A cleft lip or cleft palate
may affect the behavior of preschoolers. Experts suggest that parents discuss with their children,
ways to handle negative social situations related to their cleft lip or cleft palate. A child who is
entering school should learn the proper (and age-appropriate) terms related to the cleft. The ability
to confidently explain the condition to others may limit feelings of awkwardness and
embarrassment and reduce negative social experiences.

o As children reach adolescence, the period of time between age 13 and 19, the dynamics of the
parent-child relationship change as peer groups are now the focus of attention. An adolescent with
cleft lip or cleft palate will deal with the typical challenges faced by most of their peers including
issues related to self-esteem, dating and social acceptance. Adolescents, however, view appearance
as the most important characteristic, above intelligence and humor. This being the case, adolescents
are susceptible to additional problems because they cannot hide their facial differences from their
peers.

o Adolescent boys typically deal with issues relating to withdrawal, attention, thought, and
internalizing problems, and may possibly develop anxiousness-depression and aggressive behaviors.
Adolescent girls are more likely to develop problems relating to self-concept and appearance.
Individuals with cleft lip or cleft palate often deal with threats to their quality of life for multiple
reasons including unsuccessful social relationships, deviance in social appearance, and multiple
surgeries.

 DIAGNOSIS:

Traditionally, the diagnosis is made at the time of birth by physical examination. Recent advances in
prenatal diagnosis have allowed obstetricians to diagnose facial clefts in utero with ultrasonography.

Clefts can also affect other parts of the face, such as the eyes, ears, nose, cheeks, and forehead. In 1976,
Paul Tessier described fifteen lines of cleft. Most of these craniofacial clefts are even rarer and are
frequently described as Tessier clefts using the numerical locator devised by Tessier.

Prenatal diagnosis

o Cleft lip with or without palate is classified as the most common congenital birth defect. It has been
noted that the prevalence of orofacial clefts varies by race. The highest number of cases have been
recorded among Asians and Native Americans, followed by Europeans, Hispanics and African-
Americans. The critical period for cleft development ranges from the 4th to the 12th week of
intrauterine life. Clefts of the primary palate develop between the 4th and 7th weeks of intrauterine
life, while clefts of the secondary palate develop between the 8th and 12th embryonic weeks.

o Accurate evaluation of craniofacial malformations is usually possible with the ultrasound scan
performed during pregnancy. This is however not a routine procedure according to the American
Institute of Ultrasound in Medicine. The accuracy of ultrasonography for prenatal diagnosis of cleft
 lip +/- palate is dependent on the experience of the sonologist, maternal body type, foetal position,
the amount of amniotic fluid and the type of cleft.

o Prenatal diagnosis enables appropriate and timely education and discussion with parents by the cleft
team. This helps improve the quality of treatment received by the child and improves quality of life.

o An accurate prenatal diagnosis of the CLP anomaly is critical for establishing long-term treatment
planning, prediction of treatment outcome, and discussion and education of the parent. Although
there is no intrauterine treatment for CLP, both mother and child benefit from early diagnosis and
education. A multidisciplinary team approach is now accepted as the standard of care in dealing
with CLP patients.

The time period immediately after the diagnosis and the 1st year after the birth is
most challenging for parents. A systematically planned treatment plan and support system will help assist
parents. The ultimate aim is to help educate parents and create awareness so as to improve care provided
for the child.

 SURGICAL MANAGEMENT:
In cleft lip, surgical repair of the defect of lip is done preferably at 2-3 months of age when the infant is
having good health ( At 10 weeks age, 10 lb weight and 10 gms Hb%). The operation is termed as
Cheiloplasty.
In cleft palate, Palatoplasty is the surgical reconstruction of the palate which is done to repair the cleft at
about 1-2 years of age. It should be done before the child develops defective speech.

Other surgeries

o Orthognathic surgery – surgical cutting of bone to realign the upper jaw (osteotomy). The bone is
cut then re-positioned and held together by wires or rigid fixation plates to ensure there's no
anterior-posterior discrepancy, also to reduce scarring as it reduces growth. Single piece or multi-
piece osteotomy exist. Single piece osteotomy is carried out where there is sufficient alveolar
continuity achieved from a successful bone graft. Multi piece osteotomy is performed when there is
a notable residual alveolar defect with a dental gap and oronasal fistula (communication between
the oral and nasal cavities). The goal of both single and multi piece osteotomy is to displace the
maxilla forward to obtain adequate occlusion as well to provide better support for upper lip and the
nose and to close any fistulae.
o Distraction osteogenesis – bone lengthening by gradual distraction. This involves cutting bone and
moving ends apart incrementally to allow new bone to form in the gap. This consists of several
phases. After attachment of the distracting device and the bone cuts, there is a latency phase of 3–7
days when a callus forms. In the activation phase distraction of the callus induces bony ingrowth
which can last up to 15 days depending on the required distraction. Once the required bone length is
reached, the distraction device is left to remain in situ as it acts as a rigid skeletal fixation device
until the new bone has matured (known as the consolidation period).

 NURSING MANAGEMENT:
At Birth
o Cleft lip and palate should be detected at birth during initial neonatal assessment. Associated
congenital anomalies and life-threatening problems to be identified for prompt management.

o Mother needs adequate explanation and emotional support for the stressful event. Parents and
family members should be encouraged to accept the infant and to provide tender loving care with
love and affection.

o Demonstration to be given to the mother and family member regarding feeding of the baby to
prevent aspiration and to provide adequate nutrition for growth and development. If the baby is
unable to suck the breast then expressed breast milk or artificial feeding should be given with long
handle spoon and bowl. Dropper or soft large-hole nipple can also be used.

o Hygienic measures to be followed strictly to prevent diarrhea and other GI disturbances. Small
quantity feeds to be given slowly at the side of the mouth. Precautions to be taken to prevent
chocking. The infant to be placed in upright position during feeding. Burping to be done in between
feeds.
o Essential care of the neonates to be provided with warmth, immunization, prevention of infections,
hygienic care and follow up. Explanation to be given to the parents about details of the surgical
correction of the birth defects.
Before Surgery

o Pre-surgical devices: In some cases of a severe bi-lateral complete cleft, the premaxillary segment
will be protruded far outside the mouth. Naso-alveolar molding prior to surgery can improve long-
term nasal symmetry where there is complete unilateral cleft lip–cleft palate, compared to
correction by surgery alone, according to a retrospective cohort study.

o In this study, significant improvements in nasal symmetry were observed in multiple areas
including measurements of the projected length of the nasal ala (lateral surface of the external
nose), position of the superoinferior alar groove, position of the mediolateral nasal dome, and nasal
bridge deviation. "The nasal ala projection length demonstrated an average ratio of 93.0 percent in
the surgery-alone group and 96.5 percent in the nasoalveolar molding group," this study concluded.
A systematic review found in conclusion that nasoalveolar molding had a positive effect on the
primary surgery of cleft lip/or palate treatment and aesthetics.

o Basic pre-operative preparation and care are important. Parents need emotional support. The child
should be prepared with specific direction of the surgeon with appropriate consent and all recording
to be kept ready.
After Surgery
o Immediate care after surgical repair of the defect should include close observation and monitoring
of vital signs. Bleeding from site of incision, oral secretion, vomiting and crying, routine post-
operative care to be provided.

o Special care to be given to prevent injury to the suture line. For repair of lip, adhesive or band-aid to
be placed on the suture line to prevent lateral tension of the repaired lip.

o The infant should be placed with in the mummy or hand restraint.

o The child should be kept dry, well fed and comfortable to prevent crying.

o The child should be placed on back in repair of cleft lip and on abdomen in proning position for
repair of cleft palate.

o Oral feeding to be allowed slowly with precaution, starting with clear liquid to full liquid and then
to soft food. Nutrition and hydration to be maintained. Nasogastric tube feeding may be necessary
in some children.

o Care of suture line to prevent infection is very important. Mouth care and cleaning of suture line
after each feed with normal saline or H 2O2 or sterile water or antiseptic mouthwash to be done.
Antibiotic ointment can be applied on suture line in case of lip repair. Removable suture can be
removed on 5 to 14 days depending on the condition of the wound.

o Antibiotics, analgesics and other prescribed medications to be administered with specific

precautions.

o Do not allow finger or straw inside mouth.

o Avoid sucking or talking loudly in repair of palate.

o Play and other diversions are allowed.

o Parents need continued emotional support and specific instructions in child care.

o Discharge advises to be explained, especially about prevention of infections of the operated area
and follow up. Information to be given about necessary rehabilitation facilities available for the
better social adjustment of the child.

o Speech therapy may be needed. Velopharyngeal insufficiency (VPI) can occur as a result of an
unrepaired or repaired cleft lip and palate. VPI is the inability of the soft palate to close tightly
against the back of the throat during speech, resulting in incomplete velopharyngeal closure. In turn,
this results in speech abnormalities. Velopharyngeal closure is necessary during speech because it
forms a seal between the nose and mouth, allowing the production of normal speech sounds.

VPI can cause hypernasality (excessive nasal resonance),

hyponasality (reduced nasal resonance), or a mixed nasal resonance, which is when hypernasality
and hyponasality occur simultaneously. In addition, CLP may cause abnormal positioning of
individual teeth, which can in turn affect the patient's ability to make certain sounds when speaking
such as the "f" or "v" sound and can also result in a lisp. The changes in speech may also be a
manifestation on CLP's effects on the patient's occlusion.
  PROGNOSIS:
Residual speech defect may result even after successful repair of palate which requires help from speech
therapist. Cosmetic problems of scar on the lips may be cosmetic surgery and counselling.

Measuring the outcomes of CLP treatment has been laden with difficulty due to the complexity and
longitudinal nature of cleft care, which spans birth through young adulthood. Prior attempts to study the
effectiveness of specific interventions or overall treatment protocols have been hindered by a lack of data
standards for outcomes assessment in cleft care.

The International Consortium for Health Outcome Measurement (ICHOM) has proposed the Standard Set
of Outcome Measures for Cleft Lip and Palate. The ICHOM Standard Set includes measures for many of
the important outcome domains in cleft care (hearing, breathing, eating/drinking, speech, oral health,
appearance and psychosocial well-being). It includes clinician-reported, patient-reported, and family-
reported outcome measures.

 SUMMERIZATION:

Cleft lip and cleft palate are congenital malformations of face resulting from the failure of fusion of 1 st
branchial arch during intrauterine development. The complete formation of lip often occurs by 5 to 12
weeks, whereas the formation of palate may occur only by 12 to 14 weeks of gestational age. Most clefts
are polygenic and multifactorial in origin with many genetic and environmental factors contributing.
Genetic factors cause clefts in 20% to 50% of the cases and the remaining clefts are attributable to either
environmental factors (such as teratogens) or gene-environment interactions. In cleft lip, surgical repair of
the defect of lip is done preferably at 2-3 months of age when the infant is having good, the operation is
termed as Cheiloplasty. In cleft palate, Palatoplasty is the surgical reconstruction of the palate which is
done to repair the cleft at about 1-2 years of age. It should be done before the child develops defective
speech.

 CONCLUSION:

Cleft lip with or without palate is classified as the most common congenital birth defect. It has been noted
that the prevalence of orofacial clefts varies by race. Basic pre-operative preparation and care are important.
Parents need emotional support. Mother needs adequate explanation and emotional support for the stressful
event. Parents and family members should be encouraged to accept the infant and to provide tender loving
care with love and affection. Strong parent support networks may help to prevent the development of
negative self-concept in children with cleft palate.

 BIBLIOGRAPHY:

1. Dutta Parul, ‘Pediatric Nursing’, Published by Jaypee Brothers Medical Publishers; 4th Edition
2018, page no: 445 -447.

2. Singh Meharban, ‘Care of the Newborn’, Published by CBS Publishers & distributors, 8th Edition,
2017, page no: 540-542.

3. Marlow Dorothy R, ‘Textbook of Pediatric Nursing’, Published by Elsevier, South Asian Edition
2013, page no: 323-334.

4. Paul VK, Bagga A, ‘Ghai Essential Pediatrics’, Published by CBS Publishers & Distributors Pvt
Ltd, 9th Edition, 2013, page no: 174-175.
5. https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate

6. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7491837/

7. https://www.academia.edu/Documents/in/Cleft_Lip_and_Palate