Cleft Lip and Palate: Congenital Deformity Gestation
Cleft Lip and Palate: Congenital Deformity Gestation
(cheiloschisis) and cleft palate (palatoschisis), which can also occur together as cleft lip and
palate, are variations of a type of clefting congenital deformity caused by abnormal facial development
during gestation. A cleft is a fissure or opening—a gap. It is the non-fusion of the body's natural
structures that form before birth. Approximately 1 in 700 children born have a cleft lip and/or a cleft palate.
An older term is harelip, based on the similarity to the cleft in the lip of ahare.
Clefts can also affect other parts of the face, such as the eyes, ears, nose, cheeks, and forehead. In
1976, Paul Tessierdescribed fifteen lines of cleft. Most of these craniofacial clefts are even more rare and
are frequently described as Tessier clefts using the numerical locator devised by Tessier.[1]
A cleft lip or palate can be successfully treated with surgery, especially so if conducted soon after birth or
in early childhood.
A mild form of a cleft lip is a microform cleft.[citation needed] A microform cleft can appear as small as a little
dent in the red part of the lip or look like a scar from the lip up to the nostril.[citation needed] In some
cases muscle tissue in the lip underneath the scar is affected and might require reconstructive surgery.
[citation needed]
It is advised to have newborn infants with a microform cleft checked with a craniofacial team as
soon as possible to determine the severity of the cleft.[citation needed]
3 month old boy before going into surgery to have The same boy, 1 month after Again the same boy, 18 months old. Note
his unilateral incomplete cleft lip repaired. the surgery. how the scar gets less visible with age.
6 month old girl before going into surgery to have The same girl, 1 month after Again the same girl, age 5 years old. Note how
her unilateral complete cleft lip repaired. the surgery. the scar gets less visible with age.
[edit]Cleft 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.[2]
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,
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 (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.
Note: the next images show the roof of the mouth. The top shows the nose, the lips are colored pink. For
clarity the images depict a toothless infant.
Incomplete cleft palate Unilateral complete lip and palate Bilateral complete lip and palate
A direct result of an open connection between the oral cavity and nasal cavity is velopharyngeal
inadequacy (VPI). Because of the gap, air leaks into the nasal cavity resulting in a
hypernasal voice resonance and nasal emissions.[3] Secondary effects of VPI include
speech articulation errors (e.g., distortions, substitutions, and omissions) and compensatory
misarticulations (e.g., glottal stops and posterior nasal fricatives).[4] Possible treatment options
include speech therapy, prosthetics, augmentation of the posterior pharyngeal wall, lengthening of the
palate, and surgical procedures.[3]
Submucous cleft palate (SMCP) can also occur, which is an occult cleft of the soft palate with a classic
clinical triad of bifid uvula, a furrow along the midline of the soft palate, and a notch in the posterior margin
of the hard palate.[5]
[edit]Sub-clinical manifestations
The spectrum of severity in visible CL/P is broad, ranging from notches of the vermilion and/or grooves in
the philtrum to complete unilateral and bilateral clefts of the lip and palate.[6] At the mild end of the
spectrum, studies have described minimal or microform expressions of the CL/P phenotype, typically
involving subtle defects of the lip, alveolar arch, and/or inferior nasal region to varying degrees.
[7]
Histological evidence indicates that these defects extend to the muscle fibers of the superior orbicularis
oris (OO) muscle.[8] Martin et al.[9] found histological evidence of defects in the OO muscle in two 18-week
fetuses with no obvious visible clefting, suggesting that the CL/P phenotype might also include occult
subepithelial clefts, i.e., OO defects in the absence of any overt signs of CL/P. Subsequently, Martin et al.
[10]
used ultrasonography to visualize subepithelial OO defects in a small sample of non-cleft relatives of
individuals with CL/P and healthy controls. Critically, they observed a significant increase in the frequency
of OO defects in the non-cleft relatives.
Prevalence rates reported for live births for Cleft lip with or without Cleft Palate (CL +/- P) and Cleft Palate
alone (CPO) varies within different ethnic groups.
Rate of occurrence of CPO is similar for Caucasians, Africans, North American natives, Japanese and
Chinese. The trait is dominant.
Prevalence of "cleft uvula" has varied from .02% to 18.8% with the highest numbers found
among Chippewa and Navajo and the lowest generally in Africans.[citation needed]
[edit]Causes of cleft
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, rationalising 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)
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).
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.[12]This
process is very vulnerable to multiple toxic substances, environmental pollutants, and
nutritional imbalance. The biologic mechanisms of mutual recognition of the two cabinets,
and the way they are glued together, are quite complex and obscure despite intensive
scientific research.[13]
[edit]Genetic factors
Genetic factors contributing to cleft lip and cleft palate formation have been identified for
some syndromic cases, but knowledge about genetic factors that contribute to the more
common isolated cases of cleft lip/palate is still patchy.
Many clefts run in families, even though in some cases there does not seem to be an
identifiable syndrome present,[citation needed] possibly because of the current incomplete
genetic understanding of midfacial development.
Syndromic cases:
In some cases, cleft palate is caused by syndromes which also cause other problems.
Stickler's Syndrome can cause cleft lip and palate, joint pain, and myopia.[citation needed]
Loeys-Dietz syndrome can cause cleft palate or bifid uvula, hypertelorism, and aortic
aneurysm.[citation needed]
Hardikar syndrome can cause cleft lip and palate, Hydronephrosis, Intestinal
obstruction and other symptoms.[17]
Cleft lip/palate may be present in many different chromosome disorders
including Patau Syndrome (trisomy 13).
Types include:
OFC4 608371 ? 4q
OFC6 608864 ? 1q
SUMO
OFC10 601912 2q32.2-q33
1
[edit]Environmental influences
Environmental influences may also cause, or interact with genetics to produce,
orofacial clefting. An example for how environmental factors might be linked to genetics
comes from research on mutations in the gene PHF8 that cause cleft lip/palate (see
above). It was found that PHF8 encodes for a histone lysine demethylase,[19] and is
involved in epigenetic regulation. The catalytic activity of PHF8 depends on
molecular oxygen,[19] a fact considered important with respect to reports on increased
incidence of cleft lip/palate in mice that have been exposed to hypoxia early
during pregnancy.[20] In humans, fetal cleft lip and other congenital abnormalities have
also been linked to maternal hypoxia, as caused by e.g. maternal smoking,
[21]
maternal alcohol abuse or some forms of maternal hypertension treatment.[22] Other
environmental factors that have been studied include: seasonal causes (such as
pesticide exposure); maternal diet and vitamin intake; retinoids - which are members of
the vitamin A family; anticonvulsant drugs; alcohol; cigarette use; nitrate compounds;
organic solvents; parental exposure to lead; and illegal drugs (cocaine, crack cocaine,
heroin, etc.).
Current research continues to investigate the extent to which Folic acid can reduce the
incidence of clefting.
[edit]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 cleftsin
utero.[23]
[edit]Treatment
Cleft lip and palate is very treatable; however, the kind of treatment depends on the type
and severity of the cleft.
Most children with a form of clefting are monitored by a cleft palate team or craniofacial
team through young adulthood. Care can be lifelong. Treatment procedures can vary
between craniofacial teams. For example, some teams wait on jaw correction until the
child is aged 10 to 12 (argument: growth is less influential as deciduous teethare
replaced by permanent teeth, thus saving the child from repeated corrective surgeries),
while other teams correct the jaw earlier (argument: less speech therapy is needed than
at a later age when speech therapy becomes harder). Within teams, treatment can differ
between individual cases depending on the type and severity of the cleft.
The blue lines indicate Movement of the flaps; flap A is Pre-operation Post-operation, the lip is
above.
Often a cleft palate is temporarily closed, the cleft isn't closed, but it is covered by
a palatal obturator (a prosthetic device made to fit the roof of the mouth covering the
gap).
Cleft palate can also be corrected by surgery, usually performed between 6 and 12
months. Approximately 20-25% only require one palatal surgery to achieve a competent
velopharyngeal valve capable of producing normal, non-hypernasal speech. However,
combinations of surgical methods and repeated surgeries are often necessary as the
child grows. One of the new innovations of cleft lip and cleft palate repair is the Latham
appliance. The Latham is surgically inserted by use of pins during the child's 4th or 5th
month. After it is in place, the doctor, or parents, turn a screw daily to bring the cleft
together to assist with future lip and/or palate repair.
If the cleft extends into the maxillary alveolar ridge, the gap is usually corrected by filling
the gap with bone tissue. The bone tissue can be acquired from the patients own chin, rib
or hip.
Children with cleft palate typically have a variety of speech problems. Some speech
problems result directly from anatomical differences such as velopharyngeal inadequacy.
Velopharyngeal inadequacy refers to the inability of the soft palate to close the opening
from the throat to the nasal cavity, which is necessary for many speech sounds, such
as /p/, /b/, /t/, /d/, /s/, /z/, etc.[26] This type of errors typically resolve after palate repair.[27]
However, sometimes children with cleft palate also have speech errors which develop as
the result of an attempt to compensate for the inability to produce the target phoneme.
These are known as compensatory articulations. Compensatory articulations are usually
sounds that are non-existent in normal English phonology, often do not resolve
automatically after palatal repair, and make a child’s speech even more difficult to
understand.[27][28][29]
Note that each individual patient's schedule is treated on a case-by-case basis and can
vary per hospital. The table below shows a common sample treatment schedule. The
colored squares indicate the average timeframe in which the indicated procedure occurs.
In some cases this is usually one procedure (for example lip repair) in other cases this is
an ongoing therapy (for example speech therapy).
0 3 6 9 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18
age m m m m y y y y y y y y y y y y y y y y y y
Palatal obturator
Repair cleft lip
Repair soft palate
Repair hard palate
Tympanostomy tube
Speech
therapy/Pharyngoplasty
Bone grafting jaw
Orthodontics
Further cosmetic
corrections (Including
jawbone surgery)
[edit]Craniofacial team
Main article: Craniofacial team
A craniofacial team is routinely used to treat this condition. The majority of hospitals still
use craniofacial teams; yet others are making a shift towards dedicated cleft lip and
palate programs. While craniofacial teams are widely knowledgeable about all aspects of
craniofacial conditions, dedicated cleft lip and palate teams are able to dedicate many of
their efforts to being on the cutting edge of new advances in cleft lip and palate care.
Many of the top pediatric hospitals are developing their own CLP clinics in order to
provide patients with comprehensive multi-disciplinary care from birth through
adolescence. Allowing an entire team to care for a child throughout their cleft lip and
palate treatment (which is ongoing) allows for the best outcomes in every aspect of a
child's care. While the individual approach can yield significant results, current trends
indicate that team based care leads to better outcomes for CLP patients. .[31]
The members of the craniofacial team at a minimum include a plastic or facial plastic
surgeon, or an Oral and maxillofacial surgeon trained in craniofacial surgery,
otolaryngologist, geneticist, orthodontist, and social worker.
A complete listing of craniofacial teams in the United States is available through the Cleft
Palate Foundation
[edit]Complications
A baby being fed using a customized bottle. The upright sitting position allowsgravity to help the
baby swallow the milk more easily
Cleft may cause problems with feeding, ear disease, speech and socialization.
Due to lack of suction, an infant with a cleft may have trouble feeding. An infant with a
cleft palate will have greater success feeding in a more upright position. Gravity will help
prevent milk from coming through the baby's nose if he/she has cleft palate. Gravity
feeding can be accomplished by using specialized equipment, such as the Haberman
Feeder, or by using a combination of nipples and bottle inserts like the one shown, is
commonly used with other infants. A large hole, crosscut, or slit in the nipple, a protruding
nipple and rhythmically squeezing the bottle insert can result in controllable flow to the
infant without the stigma caused by specialized equipment.
Individuals with cleft also face many middle ear infections which can eventually lead to
total hearing loss. The Eustachian tubes and external ear canals may be angled or
tortuous, leading to food or other contamination of a part of the body that is normally self
cleaning.
Speech is both receptive and expressive. We hear and understand spoken language
(receptive) We learn to manipulate our mouth, tongue, oral cavity, to express ourselves
(expressive).
Hearing is related to learning to speak. Babies with palatal clefts may have compromised
hearing and therefore, if the baby cannot hear, it cannot try to mimic the sounds of
speech. Thus, even before expressive language acquisition, the baby with the cleft palate
is at risk for receptive language acquisition. Because the lips and palate are both used in
pronunciation, individuals with cleft usually need the aid of a speech therapist.
Bonding with the infant, socializing with family and community may be interrupted by the
unexpected appearance, unusual speech and the surgical interventions necessary.
Support for the parents as well as for the child can be pivotal.
[edit]Psychosocial issues
Having a cleft palate/lip does not inevitably lead to a psychosocial problem. Most children
who have their clefts repaired early enough are able to have a happy youth and a healthy
social life. However, it is important to remember that adolescents with cleft palate/lip are
at an elevated risk for developing psychosocial problems especially those relating to self
concept, peer relationships, and appearance. It is important for parents to be aware of
the psychosocial challenges their adolescents may face and to know where to find
professional help if problems arise.
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.[33] Strong parent support networks may help to
prevent the development of negative self-concept in children with cleft palate[citation needed]. 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 and 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 and 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.[34]
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 and 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.
[35][36][37]
Adolescents, however, view appearance as the most important characteristic
above intelligence and humor.[38] This being the case, adolescents are susceptible to
additional problems because they cannot hide their facial differences from their peers.
Adolescent boys typically deal with issues relating to withdrawal, attention, thought,
and internalizing problems and may possibly develop anxiousness-depression and
aggressive behaviors.[37] Adolescent girls are more likely to develop problems relating to
self concept and appearance. Individuals with cleft lip and 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.
[edit]Controversy
In some countries, cleft lip or palate deformities are considered reasons (either generally
tolerated or officially sanctioned) to perform abortion beyond the legal fetal age limit, even
though the fetus is not in jeopardy of life or limb. Some human rights activists contend
this practice of "cosmetic murder" amounts to eugenics. British clergywoman Joanna
Jepson, who suffered from a congenital jaw deformity herself (not a cleft lip or palate as
is sometimes reported), has started legal action to stop the practice in the United
Kingdom[39][40] (although in the United Kingdom, such an abortion would not be permitted
under the 1967 Abortion Act, because a cleft lip and palate is not considered a serious
handicap).
Name Comments
[42]
John Henry "Doc" American dentist, gambler and gunfighter of the American Old West,
Holliday who is usually remembered for his friendship withWyatt Earp and
the Gunfight at the O.K. Corral
[43]
Tutankhamen Egyptian pharaoh who may have had a slightly cleft palate according
to diagnostic imaging
[44]
Thorgils Skarthi Thorgils 'the hare-lipped' - a 10th century Viking warrior and founder
of Scarborough, England.
[45]
Tad Lincoln Fourth and youngest son of President Abraham Lincoln
[46][47]
Carmit Bachar American dancer and singer
[48]
Jürgen Habermas German philosopher and sociologist
[49]
Ljubo Milicevic Australian professional footballer
[50]
Stacy Keach American actor and narrator
[51]
Cheech Marin American actor and comedian
[52]
Chin-Chin American magician and stage illusionist
[53]
Owen Schmitt American football fullback
Difficulty with nursing is the most common problem associated with clefts, but aspiration
pneumonia, regurgitation, and malnutrition are often seen with cleft palate and is a
common cause of death. Providing nutrition through a feeding tube is often necessary,
but corrective surgery in dogs can be done by the age of twelve weeks.[54] For cleft palate,
there is a high rate of surgical failure resulting in repeated surgeries.[59] Surgical
techniques for cleft palate in dogs include prosthesis, mucosal flaps, and
microvascular free flaps.[60] Affected animals should not be bred due to the hereditary
nature of this condition.
Cleft lip in a Boxer Cleft lip in a Boxer with premaxillary Same dog as picture on left, one year
involvement later
[edit]See also