Cleft
Encyclopedia
Cleft lip 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 a hare
.
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 more rare and are frequently described as Tessier clefts using the numerical locator devised by Tessier.
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. 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. In some cases muscle tissue in the lip
underneath the scar is affected and might require reconstructive surgery. 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.
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, 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.
A result of an open connection between the oral cavity and nasal cavity
is called velopharyngeal inadequacy (VPI). Because of the gap, air leaks into the nasal cavity resulting in a hypernasal 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 stop
s 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 (SMCP) can also occur, which is a cleft of the soft palate with a classic clinical triad of a bifid, or split, uvula which is found dangling in the back of the throat, a furrow along the midline of the soft palate, and a notch in the back margin of the hard palate.
A cleft palate/lip may impact an individual’s self-esteem
, social skills
, and behavior
. There is a large amount of research dedicated to the psychosocial development of individuals with cleft palate. Self-concept may be adversely affected by the presence of a cleft lip and or cleft palate, particularly among girls. Research has shown that during the early preschool years (ages 3–5), children with cleft lip and 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 with other children 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 speech abnormalities, if present. 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 and or cleft palate. Children with clefts tend to report feelings of anger, sadness, fear, and alienation from their peers. Yet these children were similar to their peers in regard to "how well they liked themselves."
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. 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.
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. 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. 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 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.
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. 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.
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. 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.
Many clefts run in families, even though in some cases there does not seem to be an identifiable syndrome present, possibly because of the current incomplete genetic understanding of midfacial development.
A number of genes are involved including cleft lip and palate transmembrane protein 1 and GAD1
, one of the glutamate decarboxylase
s
Syndromes
In some cases, cleft palate is caused by syndromes which also cause other problems.
Specific genes
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
.
Types include:
that cause cleft lip/palate (see above). It was found that PHF8
encodes for a histone
lysine demethylase, and is involved in epigenetic regulation. The catalytic activity of PHF8 depends on molecular oxygen
, 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
. In humans, fetal cleft lip and other congenital abnormalities have also been linked to maternal hypoxia, as caused by e.g. maternal smoking, maternal alcohol abuse
or some forms of maternal hypertension
treatment. 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.
have allowed obstetricians to diagnose facial clefts in utero
.
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 teeth
are 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.
is performed to close the cleft lip. While surgery to repair a cleft lip can be performed soon after birth, often the preferred age is at approximately 10 weeks of age, following the "rule of 10s" coined by surgeons Wilhelmmesen and Musgrave in 1969 (the child is at least 10 weeks of age; weighs at least 10 pounds, and has at least 10g hemoglobin). If the cleft is bilateral and extensive, two surgeries may be required to close the cleft, one side first, and the second side a few weeks later. The most common procedure to repair a cleft lip is the Millard procedure pioneered by Ralph Millard
. Millard performed the first procedure at a Mobile Army Surgical Hospital
(MASH) unit in Korea.
Often an incomplete cleft lip requires the same surgery as complete cleft. This is done for two reasons. Firstly the group of muscle
s required to purse the lips run through the upper lip. In order to restore the complete group a full incision must be made. Secondly, to create a less obvious scar the surgeon tries to line up the scar with the natural lines in the upper lip (such as the edges of the philtrum
) and tuck away stitches as far up the nose as possible. Incomplete cleft gives the surgeon more tissue to work with, creating a more supple and natural-looking upper lip.
Nasoalveolar molding prior to surgery can improve long-term nasal symmetry among patients with complete unilateral cleft lip-cleft palate patients compared to correction by surgery alone, according to a retrospective cohort study
. 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.
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.
is often inserted into the eardrum
to aerate the middle ear
. This is often beneficial for the hearing ability of the child.
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. This type of errors typically resolve after palate repair.
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.
Speech-language pathology can be very beneficial to help resolve speech problems associated with cleft palate. In addition, research has indicated that children who receive early language intervention are less likely to develop compensatory error patterns later.
s lack an anchor to function effectively. In this situation, when the air in the middle ear is absorbed by the mucous membrane, the negative pressure is not compensated, which results in the secretion of fluid into the middle ear space from the mucous membrane. Children with this problem typically have a conductive hearing loss primarily caused by this middle ear effusion.
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. .
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.
The highest prevalence rates
for (CL ± P) are reported for Native Americans
and Asians. Africans have the lowest prevalence rates.
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.
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
(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).
The Japanese anime
Ghost Stories
caused controversy through an episode featuring a Kuchisake-onna
(a ghost with a Glasgow smile
) because her scar resembled a cleft lip.
and dog
s, and rarely in sheep, cat
s, horse
s, panda
s and ferret
s. Most commonly, the defect involves the lip, rhinarium
, and premaxilla
. Clefts of the hard and soft palate are sometimes seen with a cleft lip. The cause is usually hereditary. Brachycephalic
dogs such as Boxers
and Boston Terrier
s are most commonly affected. An inherited disorder with incomplete penetrance
has also been suggested in Shih tzu
s, Swiss Sheepdogs, Bulldog
s, and Pointers
. In horses, it is a rare condition usually involving the caudal soft palate. In Charolais cattle
, clefts are seen in combination with arthrogryposis
, which is inherited as an autosomal recessive trait. It is also inherited as an autosomal recessive trait in Texel sheep
. Other contributing factors may include maternal nutritional deficiencies, exposure in utero to viral infections, trauma, drugs, or chemicals, or ingestion of toxins by the mother, such as certain lupin
es by cattle during the second or third month of gestation
. The use of corticosteroid
s during pregnancy in dogs and the ingestion of Veratrum californicum
by pregnant sheep have also been associated with cleft formation.
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. For cleft palate, there is a high rate of surgical failure resulting in repeated surgeries. Surgical techniques for cleft palate in dogs include prosthesis
, mucosal flaps, and microvascular free flaps. Affected animals should not be bred due to the hereditary nature of this condition.
Gestation
Gestation is the carrying of an embryo or fetus inside a female viviparous animal. Mammals during pregnancy can have one or more gestations at the same time ....
. A cleft
Cleft
Cleft lip and cleft palate , 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...
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 a hare
Hare
Hares and jackrabbits are leporids belonging to the genus Lepus. Hares less than one year old are called leverets. Four species commonly known as types of hare are classified outside of Lepus: the hispid hare , and three species known as red rock hares .Hares are very fast-moving...
.
Clefts can also affect other parts of the face, such as the eyes, ears, nose, cheeks, and forehead. In 1976, Paul Tessier
Paul Tessier
Paul Tessier was a French surgeon. He was considered the father of modern craniofacial surgery.-Biography:...
described 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.
A cleft lip or palate can be successfully treated with surgery
Surgery
Surgery is an ancient medical specialty that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury, or to help improve bodily function or appearance.An act of performing surgery may be called a surgical...
, especially so if conducted soon after birth
Birth
Birth is the act or process of bearing or bringing forth offspring. The offspring is brought forth from the mother. The time of human birth is defined as the time at which the fetus comes out of the mother's womb into the world...
or in early childhood.
Cleft lip and palate
If the cleft does not affect the palate structure of the mouth it is referred to as cleft lip. Cleft lip is formed in the top of the lip as either a small gap or an indentation in the lip (partial or incomplete cleft) or it continues into the nose (complete cleft). Lip cleft can occur as a one sided (unilateral) or two sided (bilateral). It is due to the failure of fusion of the maxillary and medial nasal processes (formation of the primary palate).A mild form of a cleft lip is a microform cleft. 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. In some cases muscle tissue in the lip
Orbicularis oris muscle
In human anatomy, the orbicularis oris muscle is the sphincter muscle around the mouth."Orbicularis Oris is a complex of muscles in the lips that encircle the mouth; until recently it was misinterpreted as a sphincter, or circular muscle, but it is actually composed of four independent quadrants...
underneath the scar is affected and might require reconstructive surgery. It is advised to have newborn infants with a microform cleft checked with a craniofacial team
Craniofacial team
A craniofacial team is a team of medical specialists that treat children and adults who have facial deformities such as cleft lip, cleft palate, and cleft lip with cleft palate....
as soon as possible to determine the severity of the cleft.
Cleft palate
Cleft palate is a condition in which the two plates of the skullHuman skull
The human skull is a bony structure, skeleton, that is in the human head and which supports the structures of the face and forms a cavity for the brain.In humans, the adult skull is normally made up of 22 bones...
that form the hard palate
Hard palate
The hard palate is a thin horizontal bony plate of the skull, located in the roof of the mouth. It spans the arch formed by the upper teeth.It is formed by the palatine process of the maxilla and horizontal plate of palatine bone....
(roof of the mouth) are not completely joined. The soft palate
Soft palate
The soft palate is the soft tissue constituting the back of the roof of the mouth. The soft palate is distinguished from the hard palate at the front of the mouth in that it does not contain bone....
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, 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
Secondary palate
The secondary palate is an anatomical structure that divides the nasal cavity from the oral cavity in many vertebrates.In human embryology, it refers to that portion of the hard palate that is formed by the growth of the two palatine shelves medially and their mutual fusion in the midline...
).
The hole in the roof of the mouth caused by a cleft connects the mouth directly to the nasal cavity
Nasal cavity
The nasal cavity is a large air filled space above and behind the nose in the middle of the face.- Function :The nasal cavity conditions the air to be received by the other areas of the respiratory tract...
.
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.
A result of an open connection between the oral cavity and nasal cavity
Nasal cavity
The nasal cavity is a large air filled space above and behind the nose in the middle of the face.- Function :The nasal cavity conditions the air to be received by the other areas of the respiratory tract...
is called velopharyngeal inadequacy (VPI). Because of the gap, air leaks into the nasal cavity resulting in a hypernasal voice
Voice
Voice may refer to:* Human voice* Voice control or voice activation* Writer's voice* Voice acting* Voice vote* Voice message-In film:* Voice , a 2005 South Korean film* The Voice , a 2010 Turkish horror film directed by Ümit Ünal...
resonance
Resonance
In physics, resonance is the tendency of a system to oscillate at a greater amplitude at some frequencies than at others. These are known as the system's resonant frequencies...
and nasal emissions while talking. Secondary effects of VPI include speech articulation
Manner of articulation
In linguistics, manner of articulation describes how the tongue, lips, jaw, and other speech organs are involved in making a sound. Often the concept is only used for the production of consonants, even though the movement of the articulars will also greatly alter the resonant properties of the...
errors (e.g., distortions, substitutions, and omissions) and compensatory misarticulations and mispronunciations (e.g., glottal stop
Glottal stop
The glottal stop, or more fully, the voiceless glottal plosive, is a type of consonantal sound used in many spoken languages. In English, the feature is represented, for example, by the hyphen in uh-oh! and by the apostrophe or [[ʻokina]] in Hawaii among those using a preservative pronunciation of...
s and posterior nasal fricatives). Possible treatment options include speech therapy, prosthetics, augmentation of the posterior pharyngeal wall, lengthening of the palate, and surgical procedures
Pharyngeal flap surgery
Pharyngeal flap surgery is a procedure to correct the airflow during speech. The procedure is common amongpeople with cleft palate and some types of dysarthria.-Pharyngeal flap procedures:...
.
Submucous cleft palate (SMCP) can also occur, which is a cleft of the soft palate with a classic clinical triad of a bifid, or split, uvula which is found dangling in the back of the throat, a furrow along the midline of the soft palate, and a notch in the back margin of the hard palate.
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.A cleft palate/lip may impact an individual’s self-esteem
Self-esteem
Self-esteem is a term in psychology to reflect a person's overall evaluation or appraisal of his or her own worth. Self-esteem encompasses beliefs and emotions such as triumph, despair, pride and shame: some would distinguish how 'the self-concept is what we think about the self; self-esteem, the...
, social skills
Social skills
A social skill is any skill facilitating interaction and communication with others. Social rules and relations are created, communicated, and changed in verbal and nonverbal ways. The process of learning such skills is called socialization...
, and behavior
Behavior
Behavior or behaviour refers to the actions and mannerisms made by organisms, systems, or artificial entities in conjunction with its environment, which includes the other systems or organisms around as well as the physical environment...
. There is a large amount of research dedicated to the psychosocial development of individuals with cleft palate. Self-concept may be adversely affected by the presence of a cleft lip and or cleft palate, particularly among girls. Research has shown that during the early preschool years (ages 3–5), children with cleft lip and 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 with other children 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 speech abnormalities, if present. 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 and or cleft palate. Children with clefts tend to report feelings of anger, sadness, fear, and alienation from their peers. Yet these children were similar to their peers in regard to "how well they liked themselves."
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. 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.
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. 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. 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 and or cleft palate often deal with threats to their quality of life
Quality of life
The term quality of life is used to evaluate the general well-being of individuals and societies. The term is used in a wide range of contexts, including the fields of international development, healthcare, and politics. Quality of life should not be confused with the concept of standard of...
for multiple reasons including: unsuccessful social relationships, deviance in social appearance, and multiple surgeries.
Complications
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
Haberman Feeder
The Haberman Feeder is a speciality bottle named after its inventor Mandy Haberman for babies with impaired sucking ability...
, 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. 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.
Cause
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. 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.
Genetics
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, possibly because of the current incomplete genetic understanding of midfacial development.
A number of genes are involved including cleft lip and palate transmembrane protein 1 and GAD1
GAD1
Glutamate decarboxylase 1 , also known as GAD1, is a human gene.This gene encodes one of several forms of glutamic acid decarboxylase, identified as a major autoantigen in insulin-dependent diabetes. The enzyme encoded is responsible for catalyzing the production of gamma-aminobutyric acid from...
, one of the glutamate decarboxylase
Glutamate decarboxylase
Glutamate decarboxylase or glutamic acid decarboxylase is an enzyme that catalyzes the decarboxylation of glutamate to GABA and CO2. GAD uses PLP as a cofactor. The reaction proceeds as follows:...
s
Syndromes
- The Van der Woude SyndromeVan der Woude syndromeVan Der Woude syndrome is a genetic disorder and congenital malformation. People with VDWS have cleft lip with or without cleft palate, pits or mucous cysts on the lower lip, hypodontia, a hypernasal voice, cleft or bifid uvula, syngnathia, narrow high arched palate, and ankyloglossia...
is caused by a specific variation in the gene IRF6IRF6Interferon regulatory factor 6 also known as IRF6 is a protein that in humans is encoded by the IRF6 gene.-Function:This gene encodes a member of the interferon regulatory transcription factor family...
that increases the occurrence of these deformities threefold. - Another syndrome, Siderius X-linked mental retardationX-Linked mental retardationX-linked mental retardation refers to forms of mental retardation which are specifically associated with X-linked recessive inheritance....
, is caused by mutations in the PHF8PHF8PHD finger protein 8 is a protein that in humans is encoded by the PHF8 gene.- Function :PHF8 belongs to the family of ferrous iron and 2-oxoglutarate dependent oxygenases, and is active as a histone lysine demethylase with selectivity for the di-and monomethyl states.- Clinical significance...
gene ; in addition to cleft lip and/or palate, symptoms include facial dysmorphism and mild mental retardation.
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 myopiaMyopiaMyopia , "shortsightedness" ) is a refractive defect of the eye in which collimated light produces image focus in front of the retina under conditions of accommodation. In simpler terms, myopia is a condition of the eye where the light that comes in does not directly focus on the retina but in...
. - Loeys-Dietz syndromeLoeys-Dietz syndromeLoeys-Dietz syndrome is a recently-discovered autosomal dominant genetic syndrome which has many features similar to Marfan syndrome, but which is caused by mutations in the genes encoding transforming growth factor beta receptor 1 or 2 .It was identified and characterized by American physician...
can cause cleft palate or bifid uvula, hypertelorismHypertelorismHypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits . In this condition the distance between the inner eye corners as well as the distance between the pupils is greater than normal...
, and aortic aneurysmAortic aneurysmAn aortic aneurysm is a general term for any swelling of the aorta to greater than 1.5 times normal, usually representing an underlying weakness in the wall of the aorta at that location...
. - Hardikar syndrome can cause cleft lip and palate, HydronephrosisHydronephrosisHydronephrosis is distension and dilation of the renal pelvis calyces, usually caused by obstruction of the free flow of urine from the kidney, leading to progressive atrophy of the kidney...
, Intestinal obstruction and other symptoms. - Cleft lip/palate may be present in many different chromosome disorders including Patau SyndromePatau syndromePatau syndrome, also known as trisomy 13 and trisomy D, is a chromosomal abnormality, a syndrome in which a patient has an additional chromosome 13 due to a nondisjunction of chromosomes during meiosis. Some are caused by Robertsonian translocations...
(trisomy 13). - Malpuech facial clefting syndromeMalpuech facial clefting syndromeMalpuech facial clefting syndrome, also called Malpuech syndrome or Gypsy type facial clefting syndrome, is a rare congenital syndrome...
- Hearing loss with craniofacial syndromesHearing loss with craniofacial syndromesHearing loss with craniofacial syndromes is a common occurrence. Many of these multianomaly disorders involve structural malformations of the outer or middle ear, making a significant hearing loss highly likely.- Treacher Collins syndrome :...
- Popliteal pterygium syndromePopliteal pterygium syndromePopliteal pterygium syndrome is an inherited condition affecting the face, limbs, and genitalia. The syndrome goes by a number of names including the popliteal web syndrome and, more inclusively, the facio-genito-popliteal syndrome...
- Treacher Collins SyndromeTreacher Collins syndromeTreacher Collins syndrome , also known as Treacher Collins–Franceschetti syndrome, or mandibulofacial dysostosis is a rare autosomal dominant congenital disorder characterized by craniofacial deformities, such as absent cheekbones. Treacher Collins syndrome is found in about 1 in 10,000 births, ....
Specific genes
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
IRF6
Interferon regulatory factor 6 also known as IRF6 is a protein that in humans is encoded by the IRF6 gene.-Function:This gene encodes a member of the interferon regulatory transcription factor family...
, PVRL1
PVRL1
Poliovirus receptor-related 1 , also known as PVRL1, is a human gene that encodes a protein of immunoglobulin superfamily also considered a member of the nectins . It is a membrane protein with three extracellular immunoglobulin domains, a single transmembrane helix and a cytoplasmic tail...
and MSX1
MSX1
Msh homeobox 1, also known as MSX1, is a protein that in humans is encoded by the MSX1 gene. MSX1 transcripts are not only found in thyrotrope-derived TSH cells, but also in the TtT97 thyrotropic tumor, which is a well differentiated hyperplastic tissue that produces both TSHß- and a-subunits and...
. The understanding of the genetic complexities involved in the morphogenesis
Morphogenesis
Morphogenesis , is the biological process that causes an organism to develop its shape...
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
MSX1
Msh homeobox 1, also known as MSX1, is a protein that in humans is encoded by the MSX1 gene. MSX1 transcripts are not only found in thyrotrope-derived TSH cells, but also in the TtT97 thyrotropic tumor, which is a well differentiated hyperplastic tissue that produces both TSHß- and a-subunits and...
.
Types include:
| Type | OMIM | Gene | Locus |
|---|---|---|---|
| OFC1 | ? | 6p24 | |
| OFC2 | ? | 2p13 | |
| OFC3 | ? | 19q13 | |
| OFC4 | ? | 4q | |
| OFC5 | MSX1 MSX1 Msh homeobox 1, also known as MSX1, is a protein that in humans is encoded by the MSX1 gene. MSX1 transcripts are not only found in thyrotrope-derived TSH cells, but also in the TtT97 thyrotropic tumor, which is a well differentiated hyperplastic tissue that produces both TSHß- and a-subunits and... |
4p16.1 | |
| OFC6 | ? | 1q | |
| OFC7 | PVRL1 PVRL1 Poliovirus receptor-related 1 , also known as PVRL1, is a human gene that encodes a protein of immunoglobulin superfamily also considered a member of the nectins . It is a membrane protein with three extracellular immunoglobulin domains, a single transmembrane helix and a cytoplasmic tail... |
11q | |
| OFC8 | TP63 | 3q27 | |
| OFC9 | ? | 13q33.1-q34 | |
| OFC10 | SUMO1 | 2q32.2-q33 | |
| OFC11 | BMP4 | 14q22 | |
| OFC12 | ? | 8q24.3 |
Environment
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 PHF8PHF8
PHD finger protein 8 is a protein that in humans is encoded by the PHF8 gene.- Function :PHF8 belongs to the family of ferrous iron and 2-oxoglutarate dependent oxygenases, and is active as a histone lysine demethylase with selectivity for the di-and monomethyl states.- Clinical significance...
that cause cleft lip/palate (see above). It was found that PHF8
PHF8
PHD finger protein 8 is a protein that in humans is encoded by the PHF8 gene.- Function :PHF8 belongs to the family of ferrous iron and 2-oxoglutarate dependent oxygenases, and is active as a histone lysine demethylase with selectivity for the di-and monomethyl states.- Clinical significance...
encodes for a histone
Histone
In biology, histones are highly alkaline proteins found in eukaryotic cell nuclei that package and order the DNA into structural units called nucleosomes. They are the chief protein components of chromatin, acting as spools around which DNA winds, and play a role in gene regulation...
lysine demethylase, and is involved in epigenetic regulation. The catalytic activity of PHF8 depends on molecular oxygen
Oxygen
Oxygen is the element with atomic number 8 and represented by the symbol O. Its name derives from the Greek roots ὀξύς and -γενής , because at the time of naming, it was mistakenly thought that all acids required oxygen in their composition...
, a fact considered important with respect to reports on increased incidence of cleft lip/palate in mice that have been exposed to hypoxia
Hypoxia (medical)
Hypoxia, or hypoxiation, is a pathological condition in which the body as a whole or a region of the body is deprived of adequate oxygen supply. Variations in arterial oxygen concentrations can be part of the normal physiology, for example, during strenuous physical exercise...
early during pregnancy
Pregnancy
Pregnancy refers to the fertilization and development of one or more offspring, known as a fetus or embryo, in a woman's uterus. In a pregnancy, there can be multiple gestations, as in the case of twins or triplets...
. In humans, fetal cleft lip and other congenital abnormalities have also been linked to maternal hypoxia, as caused by e.g. maternal smoking, maternal alcohol abuse
Alcohol abuse
Alcohol abuse, as described in the DSM-IV, is a psychiatric diagnosis describing the recurring use of alcoholic beverages despite negative consequences. Alcohol abuse eventually progresses to alcoholism, a condition in which an individual becomes dependent on alcoholic beverages in order to avoid...
or some forms of maternal hypertension
Hypertension
Hypertension or high blood pressure is a cardiac chronic medical condition in which the systemic arterial blood pressure is elevated. What that means is that the heart is having to work harder than it should to pump the blood around the body. Blood pressure involves two measurements, systolic and...
treatment. 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
Anticonvulsant
The anticonvulsants are a diverse group of pharmaceuticals used in the treatment of epileptic seizures. Anticonvulsants are also increasingly being used in the treatment of bipolar disorder, since many seem to act as mood stabilizers, and in the treatment of neuropathic pain. The goal of an...
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
Folic acid
Folic acid and folate , as well as pteroyl-L-glutamic acid, pteroyl-L-glutamate, and pteroylmonoglutamic acid are forms of the water-soluble vitamin B9...
can reduce the incidence of clefting.
Diagnosis
Traditionally, the diagnosis is made at the time of birth by physical examination. Recent advances in prenatal diagnosisPrenatal diagnosis
Prenatal diagnosis or prenatal screening is testing for diseases or conditions in a fetus or embryo before it is born. The aim is to detect birth defects such as neural tube defects, Down syndrome, chromosome abnormalities, genetic diseases and other conditions, such as spina bifida, cleft palate,...
have allowed obstetricians to diagnose facial clefts in utero
In utero
In utero is a Latin term literally meaning "in the womb". In biology, the phrase describes the state of an embryo or fetus. In legal contexts, the phrase is used to refer to unborn children. Under common law, unborn children are still considered to exist for property transfer purposes.-See also:*...
.
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 teeth
Deciduous teeth
Deciduous teeth, otherwise known as reborner teeth, baby teeth, temporary teeth and primary teeth, are the first set of teeth in the growth development of humans and many other mammals. In some Asian countries they are referred to as fall teeth as they will eventually fall out, while in almost all...
are replaced by permanent teeth
Permanent teeth
Permanent teeth are the second set of teeth formed in humans. There are thirty-two permanent teeth, consisting of six maxillary and six mandibular molars, four maxillary and four mandibular premolars, two maxillary and two mandibular canines, four maxillary and four mandibular incisors.The first...
, 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.
Cleft lip
Within the first 2–3 months after birth, surgerySurgery
Surgery is an ancient medical specialty that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury, or to help improve bodily function or appearance.An act of performing surgery may be called a surgical...
is performed to close the cleft lip. While surgery to repair a cleft lip can be performed soon after birth, often the preferred age is at approximately 10 weeks of age, following the "rule of 10s" coined by surgeons Wilhelmmesen and Musgrave in 1969 (the child is at least 10 weeks of age; weighs at least 10 pounds, and has at least 10g hemoglobin). If the cleft is bilateral and extensive, two surgeries may be required to close the cleft, one side first, and the second side a few weeks later. The most common procedure to repair a cleft lip is the Millard procedure pioneered by Ralph Millard
Ralph Millard
David Ralph Millard, Jr. was a plastic surgeon who developed several techniques used in cleft lip and palate surgeries. He was chief of the Division of Plastic Surgery at University of Miami's Miller School of Medicine for 28 years, and maintained a private practice in Miami.In 2000, Dr...
. Millard performed the first procedure at a Mobile Army Surgical Hospital
Mobile Army Surgical Hospital
The Mobile Army Surgical Hospital refers to a United States Army medical unit serving as a fully functional hospital in a combat area of operations. The units were first established in August 1945, and were deployed during the Korean War and later conflicts. The U.S...
(MASH) unit in Korea.
Often an incomplete cleft lip requires the same surgery as complete cleft. This is done for two reasons. Firstly the group of muscle
Muscle
Muscle is a contractile tissue of animals and is derived from the mesodermal layer of embryonic germ cells. Muscle cells contain contractile filaments that move past each other and change the size of the cell. They are classified as skeletal, cardiac, or smooth muscles. Their function is to...
s required to purse the lips run through the upper lip. In order to restore the complete group a full incision must be made. Secondly, to create a less obvious scar the surgeon tries to line up the scar with the natural lines in the upper lip (such as the edges of the philtrum
Philtrum
The philtrum , is a medial cleft common to many mammals, extending from the nose to the upper lip, and, together with a glandular rhinarium and slit-like nostrils, is believed to constitute the primitive condition for mammals in general...
) and tuck away stitches as far up the nose as possible. Incomplete cleft gives the surgeon more tissue to work with, creating a more supple and natural-looking upper lip.
Pre-surgical devices
In some cases of a severe bi-lateral complete cleft, the premaxillary segment will be protruded far outside the mouth.Nasoalveolar molding prior to surgery can improve long-term nasal symmetry among patients with complete unilateral cleft lip-cleft palate patients compared to correction by surgery alone, according to a retrospective cohort study
Cohort study
A cohort study or panel study is a form of longitudinal study used in medicine, social science, actuarial science, and ecology. It is an analysis of risk factors and follows a group of people who do not have the disease, and uses correlations to determine the absolute risk of subject contraction...
. 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.
Cleft palate
Palatal obturator
A palatal obturator is a prosthesis that totally occludes an opening such as an orinasal fistula . They are similar to dental retainers, but without the front wire. Palatal obturators are typically short-term prosthetics used to close defects of the hard/soft palate that may affect speech...
(a prosthetic device made to fit the roof of the mouth covering the gap).
Cleft palate can also be corrected by surgery
Surgery
Surgery is an ancient medical specialty that uses operative manual and instrumental techniques on a patient to investigate and/or treat a pathological condition such as disease or injury, or to help improve bodily function or appearance.An act of performing surgery may be called a surgical...
, 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
Hypernasal speech
Rhinolalia , aperta = open, is the medical term for hypernasal speech. The other terms are hyperrhinolalia and open nasality. Hypernasality is a disorder of nasal speech when the sound of the voice is different, an abnormal resonance...
. 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
Latham appliance
One of the innovations of cleft lip and cleft palate repair, the Latham appliance 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....
. 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.
Speech and hearing
A tympanostomy tubeTympanostomy tube
A tympanostomy tube is a small tube inserted into the eardrum in order to keep the middle ear aerated for a prolonged period of time, and to prevent the accumulation of mucus in the middle ear. The operation to insert the tube involves a myringotomy...
is often inserted into the eardrum
Eardrum
The eardrum, or tympanic membrane, is a thin membrane that separates the external ear from the middle ear in humans and other tetrapods. Its function is to transmit sound from the air to the ossicles inside the middle ear. The malleus bone bridges the gap between the eardrum and the other ossicles...
to aerate the middle ear
Middle ear
The middle ear is the portion of the ear internal to the eardrum, and external to the oval window of the cochlea. The mammalian middle ear contains three ossicles, which couple vibration of the eardrum into waves in the fluid and membranes of the inner ear. The hollow space of the middle ear has...
. This is often beneficial for the hearing ability of the child.
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
Velopharyngeal inadequacy is a malfunction of a velopharyngeal mechanism.The velopharyngeal mechanism is responsible for directing the transmission of sound energy and air pressure in both the oral cavity and the nasal cavity. When this mechanism is impaired in some way, the valve does not fully...
. 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. This type of errors typically resolve after palate repair.
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.
Speech-language pathology can be very beneficial to help resolve speech problems associated with cleft palate. In addition, research has indicated that children who receive early language intervention are less likely to develop compensatory error patterns later.
Hearing loss
Hearing impairment is particularly prevalent in children with cleft palate. The tensor muscle fibres that open the eustachian tubeEustachian tube
The Eustachian tube is a tube that links the nasopharynx to the middle ear. It is a part of the middle ear. In adult humans the Eustachian tube is approximately 35 mm long. It is named after the sixteenth-century anatomist Bartolomeo Eustachi...
s lack an anchor to function effectively. In this situation, when the air in the middle ear is absorbed by the mucous membrane, the negative pressure is not compensated, which results in the secretion of fluid into the middle ear space from the mucous membrane. Children with this problem typically have a conductive hearing loss primarily caused by this middle ear effusion.
Sample treatment schedule
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).| age |
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| Palatal obturator Palatal obturator A palatal obturator is a prosthesis that totally occludes an opening such as an orinasal fistula . They are similar to dental retainers, but without the front wire. Palatal obturators are typically short-term prosthetics used to close defects of the hard/soft palate that may affect speech... |
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| Repair cleft lip | ||||||||||||||||||||||
| Repair soft palate Soft palate The soft palate is the soft tissue constituting the back of the roof of the mouth. The soft palate is distinguished from the hard palate at the front of the mouth in that it does not contain bone.... |
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| Repair hard palate Hard palate The hard palate is a thin horizontal bony plate of the skull, located in the roof of the mouth. It spans the arch formed by the upper teeth.It is formed by the palatine process of the maxilla and horizontal plate of palatine bone.... |
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| Tympanostomy tube Tympanostomy tube A tympanostomy tube is a small tube inserted into the eardrum in order to keep the middle ear aerated for a prolonged period of time, and to prevent the accumulation of mucus in the middle ear. The operation to insert the tube involves a myringotomy... |
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| Speech therapy/Pharyngoplasty Augmentation pharyngoplasty Augmentation pharyngoplasty is a kind of plastic surgery for the pharynx when the tissue at the back of the mouth is not able to close properly. It is typically used to correct speech problems in children with cleft palate. It may also be used to correct problems from a tonsillectomy or because... |
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| Bone grafting Bone grafting Bone grafting is a surgical procedure that replaces missing bone in order to repair bone fractures that are extremely complex, pose a significant health risk to the patient, or fail to heal properly.... jaw |
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| Orthodontics Orthodontics Orthodontics, orthodontia, or orthodonture is the first specialty of dentistry that is concerned with the study and treatment of malocclusions , which may be a result of tooth irregularity, disproportionate jaw relationships, or both... |
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| Further cosmetic corrections (Including jawbone surgery) |
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. .
Epidemiology
PrevalencePrevalence
In epidemiology, the prevalence of a health-related state in a statistical population is defined as the total number of cases of the risk factor in the population at a given time, or the total number of cases in the population, divided by the number of individuals in the population...
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.
The highest prevalence rates
Rates
Rates is a Portuguese parish and town located in the municipality of Póvoa de Varzim. In the census of 2001, it had a population of 2,539 inhabitants and a total area of 13.88 square kilometres.-History:...
for (CL ± P) are reported for Native Americans
Native Americans in the United States
Native Americans in the United States are the indigenous peoples in North America within the boundaries of the present-day continental United States, parts of Alaska, and the island state of Hawaii. They are composed of numerous, distinct tribes, states, and ethnic groups, many of which survive as...
and Asians. Africans have the lowest prevalence rates.
- Native Americans: 3.74/1000
- JapaneseJapanese peopleThe are an ethnic group originating in the Japanese archipelago and are the predominant ethnic group of Japan. Worldwide, approximately 130 million people are of Japanese descent; of these, approximately 127 million are residents of Japan. People of Japanese ancestry who live in other countries...
: 0.82/1000 to 3.36/1000 - ChineseHan ChineseHan Chinese are an ethnic group native to China and are the largest single ethnic group in the world.Han Chinese constitute about 92% of the population of the People's Republic of China , 98% of the population of the Republic of China , 78% of the population of Singapore, and about 20% of the...
: 1.45/1000 to 4.04/1000 - CaucasiansCaucasian raceThe term Caucasian race has been used to denote the general physical type of some or all of the populations of Europe, North Africa, the Horn of Africa, Western Asia , Central Asia and South Asia...
: 1.43/1000 to 1.86/1000 - Latin AmericansLatin AmericansLatin Americans are the citizens of the Latin American countries and dependencies. Latin American countries are multi-ethnic, home to people of different ethnic and national backgrounds. As a result, some Latin Americans don't take their nationality as an ethnicity, but identify themselves with...
: 1.04/1000 - Africans: 0.18/1000 to 1.67/1000
Rate of occurrence of CPO is similar for Caucasians, Africans, North American natives, Japanese and Chinese. The trait is dominant.
Prevalence of "cleft uvula
Uvula
The palatine uvula, usually referred to as simply the uvula , is the conic projection from the posterior edge of the middle of the soft palate, composed of connective tissue containing a number of racemose glands, and some muscular fibers .-Function in language:The uvula plays a role in the...
" has varied from .02% to 18.8% with the highest numbers found among Chippewa and Navajo
Navajo people
The Navajo of the Southwestern United States are the largest single federally recognized tribe of the United States of America. The Navajo Nation has 300,048 enrolled tribal members. The Navajo Nation constitutes an independent governmental body which manages the Navajo Indian reservation in the...
and the lowest generally in Africans.
Controversy
In some countries, cleft lip or palate deformities are considered reasons (either generally tolerated or officially sanctioned) to perform abortionAbortion
Abortion is defined as the termination of pregnancy by the removal or expulsion from the uterus of a fetus or embryo prior to viability. An abortion can occur spontaneously, in which case it is usually called a miscarriage, or it can be purposely induced...
beyond the legal fetal age limit, even though the fetus
Fetus
A fetus is a developing mammal or other viviparous vertebrate after the embryonic stage and before birth.In humans, the fetal stage of prenatal development starts at the beginning of the 11th week in gestational age, which is the 9th week after fertilization.-Etymology and spelling variations:The...
is not in jeopardy of life or limb. Some human rights
Human rights
Human rights are "commonly understood as inalienable fundamental rights to which a person is inherently entitled simply because she or he is a human being." Human rights are thus conceived as universal and egalitarian . These rights may exist as natural rights or as legal rights, in both national...
activists contend this practice of "cosmetic murder" amounts to eugenics
Eugenics
Eugenics is the "applied science or the bio-social movement which advocates the use of practices aimed at improving the genetic composition of a population", usually referring to human populations. The origins of the concept of eugenics began with certain interpretations of Mendelian inheritance,...
. British clergywoman Joanna Jepson
Joanna Jepson
Joanna Jepson is a Church of England vicar most notable for instigating a legal challenge to the late abortion of a 28-week-old fetus in 2001...
, 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
United Kingdom
The United Kingdom of Great Britain and Northern IrelandIn the United Kingdom and Dependencies, other languages have been officially recognised as legitimate autochthonous languages under the European Charter for Regional or Minority Languages...
(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).
The Japanese anime
Anime
is the Japanese abbreviated pronunciation of "animation". The definition sometimes changes depending on the context. In English-speaking countries, the term most commonly refers to Japanese animated cartoons....
Ghost Stories
Ghost Stories (anime)
, also known as Ghosts at School, is a 19-episode anime series created in 2000 by animation studio Pierrot and Aniplex for Fuji Television, based on a book series by Toru Tsunemitsu....
caused controversy through an episode featuring a Kuchisake-onna
Kuchisake-onna
In Japanese mythology, is a woman who is mutilated by a jealous husband and returns as a malicious spirit. The Kuchisake-onna legend became popular enough to cause some panic in Japan during the 1980s, and there are even reports of schools asking children to go home in groups for safety.-Older...
(a ghost with a Glasgow smile
Glasgow smile
A Glasgow smile refers to the wound that results from slashing a person's face from the edges of the mouth to the ears. The cut, which is usually made with a utility knife or a piece of broken glass, leaves a scar that makes the victim appear to be smiling broadly...
) because her scar resembled a cleft lip.
Notable cases
| Name | Comments | |
|---|---|---|
| John Henry "Doc" Holliday Doc Holliday John Henry "Doc" Holliday was an American gambler, gunfighter and dentist of the American Old West, who is usually remembered for his friendship with Wyatt Earp and his involvement in the Gunfight at the O.K. Corral... |
America United States The United States of America is a federal constitutional republic comprising fifty states and a federal district... n dentist Dentistry Dentistry is the branch of medicine that is involved in the study, diagnosis, prevention, and treatment of diseases, disorders and conditions of the oral cavity, maxillofacial area and the adjacent and associated structures and their impact on the human body. Dentistry is widely considered... , gambler Gambling Gambling is the wagering of money or something of material value on an event with an uncertain outcome with the primary intent of winning additional money and/or material goods... and gunfighter of the American Old West American Old West The American Old West, or the Wild West, comprises the history, geography, people, lore, and cultural expression of life in the Western United States, most often referring to the latter half of the 19th century, between the American Civil War and the end of the century... , who is usually remembered for his friendship with Wyatt Earp Wyatt Earp Wyatt Berry Stapp Earp was an American gambler, investor, and law enforcement officer who served in several Western frontier towns. He was also at different times a farmer, teamster, bouncer, saloon-keeper, miner and boxing referee. However, he was never a drover or cowboy. He is most well known... and the Gunfight at the O.K. Corral Gunfight at the O.K. Corral The Gunfight at the O.K. Corral was a roughly 30-second gunfight that took place at about 3:00 p.m. on Wednesday, October 26, 1881, in Tombstone, Cochise County, Arizona Territory, of the United States. Outlaw Cowboys Ike Clanton and Billy Claiborne ran from the fight, unharmed, but Ike's brother... |
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| Tutankhamen | Egyptian pharaoh Pharaoh Pharaoh is a title used in many modern discussions of the ancient Egyptian rulers of all periods. The title originates in the term "pr-aa" which means "great house" and describes the royal palace... who may have had a slightly cleft palate according to diagnostic imaging |
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| Thorgils Skarthi Thorgils Skarthi Thorgils Skarthi was a Viking raider and poet who, in about 966 founded, Scarborough, England which was then known as Skarðaborg.... |
Thorgils 'the hare-lipped' — a 10th century Viking warrior and founder of Scarborough, England. | |
| Tad Lincoln Tad Lincoln Thomas "Tad" Lincoln was the fourth and youngest son of Abraham and Mary Lincoln. The nickname "Tad" was given to him by his father who found Thomas "as wriggly as a tadpole" when he was a baby. Tad was known to be impulsive, unrestrained, and did not attend school... |
Fourth and youngest son of President Abraham Lincoln Abraham Lincoln Abraham Lincoln was the 16th President of the United States, serving from March 1861 until his assassination in April 1865. He successfully led his country through a great constitutional, military and moral crisis – the American Civil War – preserving the Union, while ending slavery, and... |
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| Carmit Bachar Carmit Bachar Carmit Bachar is an American singer, dancer, model, actress and showgirl. She was a member of the successful pop/R&B group, The Pussycat Dolls and one of the main vocalists of the group, along with Nicole Scherzinger and Melody Thornton. Bachar left the group in February 2008. She is currently... |
American dancer and singer | |
| Jürgen Habermas Jürgen Habermas Jürgen Habermas is a German sociologist and philosopher in the tradition of critical theory and pragmatism. He is perhaps best known for his theory on the concepts of 'communicative rationality' and the 'public sphere'... |
German philosopher and sociologist | |
| Ljubo Milicevic Ljubo Milicevic Ljubo Miličević is an Australian football player who currently plays for Hajduk Split in the Prva HNL.-Early Career and Overseas:... |
Australian professional footballer | |
| Stacy Keach Stacy Keach Stacy Keach is an American actor and narrator. He is most famous for his dramatic roles; however, he has done narration work in educational programming on PBS and the Discovery Channel, as well as some comedy and musical... |
American actor Actor An actor is a person who acts in a dramatic production and who works in film, television, theatre, or radio in that capacity... and narrator Narrator A narrator is, within any story , the fictional or non-fictional, personal or impersonal entity who tells the story to the audience. When the narrator is also a character within the story, he or she is sometimes known as the viewpoint character. The narrator is one of three entities responsible for... |
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| Cheech Marin Cheech Marin Richard Anthony "Cheech" Marin is an American comedian, actor and writer who gained recognition as part of the comedy act Cheech & Chong during the 1970s and early 1980s, and as Don Johnson's partner, Insp. Joe Dominguez on Nash Bridges... |
American actor Actor An actor is a person who acts in a dramatic production and who works in film, television, theatre, or radio in that capacity... and comedian Comedian A comedian or comic is a person who seeks to entertain an audience, primarily by making them laugh. This might be through jokes or amusing situations, or acting a fool, as in slapstick, or employing prop comedy... |
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| Chin-Chin | American magician and stage illusionist | |
| Owen Schmitt Owen Schmitt -Seattle Seahawks:Schmitt was drafted in the fifth round in the 2008 NFL Draft by the Seattle Seahawks. He was the second Mountaineer selected in the draft, behind Steve Slaton in the third round to the Houston Texans. Schmitt signed a four-year $1.87 million contract that included a $158,000... |
American football American football American football is a sport played between two teams of eleven with the objective of scoring points by advancing the ball into the opposing team's end zone. Known in the United States simply as football, it may also be referred to informally as gridiron football. The ball can be advanced by... fullback Fullback (American football) A fullback is a position in the offensive backfield in American and Canadian football, and is one of the two running back positions along with the halfback... |
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| Tim Lott Tim Lott Tim Lott is a British author. After running his own magazine publishing business, he graduated from the London School of Economics in 1986.... |
English author and journalist | |
| Richard Hawley Richard Hawley Richard Hawley is a guitarist, singer-songwriter and producer. After his first band Treebound Story broke up, Hawley found success as a member of Britpop band Longpigs in the 1990s. He later joined the band Pulp, led by his friend Jarvis Cocker... |
English musician |
In other animals
Cleft lips and palates are occasionally seen in cattleCattle
Cattle are the most common type of large domesticated ungulates. They are a prominent modern member of the subfamily Bovinae, are the most widespread species of the genus Bos, and are most commonly classified collectively as Bos primigenius...
and dog
Dog
The domestic dog is a domesticated form of the gray wolf, a member of the Canidae family of the order Carnivora. The term is used for both feral and pet varieties. The dog may have been the first animal to be domesticated, and has been the most widely kept working, hunting, and companion animal in...
s, and rarely in sheep, cat
Cat
The cat , also known as the domestic cat or housecat to distinguish it from other felids and felines, is a small, usually furry, domesticated, carnivorous mammal that is valued by humans for its companionship and for its ability to hunt vermin and household pests...
s, horse
Horse
The horse is one of two extant subspecies of Equus ferus, or the wild horse. It is a single-hooved mammal belonging to the taxonomic family Equidae. The horse has evolved over the past 45 to 55 million years from a small multi-toed creature into the large, single-toed animal of today...
s, panda
Panda
Panda or Panda bear most often refers to:*Giant panda, an animal in the Bear familyPanda may also refer to:*Red panda, the only living member in the Ailuridae family-In biology:* Species related to the Giant panda...
s and ferret
Ferret
The ferret is a domesticated mammal of the type Mustela putorius furo. Ferrets are sexually dimorphic predators with males being substantially larger than females. They typically have brown, black, white, or mixed fur...
s. Most commonly, the defect involves the lip, rhinarium
Rhinarium
The rhinarium is the moist, naked surface around the nostrils of the nose in most mammals. In actual scientific usage it is typically called a "wet snout" or "wet nose" from its moist and shiny appearance...
, and premaxilla
Premaxilla
The incisive bone is the portion of the maxilla adjacent to the incisors. It is a pair of small cranial bones at the very tip of the jaws of many animals, usually bearing teeth, but not always. They are connected to the maxilla and the nasals....
. Clefts of the hard and soft palate are sometimes seen with a cleft lip. The cause is usually hereditary. Brachycephalic
Cephalic index
Cephalic index is the ratio of the maximum width of the head multiplied by 100 divided by its maximum length ....
dogs such as Boxers
Boxer (dog)
Developed in Germany, the Boxer is a breed of stocky, medium-sized, short-haired dog. The coat is smooth and fawn or brindled, with or without white markings. Boxers are brachycephalic , and have a square muzzle, mandibular prognathism , very strong jaws and a powerful bite ideal for hanging on to...
and Boston Terrier
Boston Terrier
The Boston Terrier is a breed of dog originating in the United States of America. This "American Gentleman" was accepted in 1893 by the American Kennel Club as a non-sporting breed. Color and markings are important when distinguishing this breed to the AKC standard. They should be either black,...
s are most commonly affected. An inherited disorder with incomplete penetrance
Penetrance
Penetrance in genetics is the proportion of individuals carrying a particular variant of a gene that also express an associated trait . In medical genetics, the penetrance of a disease-causing mutation is the proportion of individuals with the mutation who exhibit clinical symptoms...
has also been suggested in Shih tzu
Shih Tzu
The Shih Tzu is a breed of dog weighing with long silky hair. The breed originated in China and is among the earliest breeds. Shih Tzu were officially recognized by the American Kennel Club in 1969...
s, Swiss Sheepdogs, Bulldog
Bulldog
Bulldog is the name for a breed of dog commonly referred to as the English Bulldog. Other Bulldog breeds include the American Bulldog, Olde English Bulldogge and the French Bulldog. The Bulldog is a muscular heavy dog with a wrinkled face and a distinctive pushed-in nose...
s, and Pointers
Pointer (dog breed)
The Pointer, often called the English Pointer, is a breed of dog developed as a gun dog. It is one of several pointing breeds.-Appearance:...
. In horses, it is a rare condition usually involving the caudal soft palate. In Charolais cattle
Charolais cattle
Charolais cattle are a beef breed of cattle which originated in Charolais, around Charolles, in France. They are raised for their meat and are known for their composite qualities when crossed with other breeds, most notably Angus and Hereford cattle...
, clefts are seen in combination with arthrogryposis
Arthrogryposis
Arthrogryposis, also known as Arthrogryposis Multiplex Congenita, is a rare congenital disorder that is characterized by multiple joint contractures and can include muscle weakness and fibrosis. It is a non-progressive disease...
, which is inherited as an autosomal recessive trait. It is also inherited as an autosomal recessive trait in Texel sheep
Texel (sheep)
The Texel is a breed of domestic sheep originally from the island of Texel in the Netherlands. It is now a popular lean meat sheep in the USA, Australia, New Zealand, Uruguay and Europe. The Texel is a heavily muscled sheep. It produces a lean meat carcass and will pass on this quality to crossbred...
. Other contributing factors may include maternal nutritional deficiencies, exposure in utero to viral infections, trauma, drugs, or chemicals, or ingestion of toxins by the mother, such as certain lupin
Lupin
Lupinus, commonly known as Lupins or lupines , is a genus in the legume family . The genus comprises about 280 species , with major centers of diversity in South and western North America , and the Andes and secondary centers in the Mediterranean region and Africa Lupinus, commonly known as Lupins...
es by cattle during the second or third month of gestation
Gestation
Gestation is the carrying of an embryo or fetus inside a female viviparous animal. Mammals during pregnancy can have one or more gestations at the same time ....
. The use of corticosteroid
Corticosteroid
Corticosteroids are a class of steroid hormones that are produced in the adrenal cortex. Corticosteroids are involved in a wide range of physiologic systems such as stress response, immune response and regulation of inflammation, carbohydrate metabolism, protein catabolism, blood electrolyte...
s during pregnancy in dogs and the ingestion of Veratrum californicum
Veratrum californicum
Veratrum californicum is a poisonous plant native to mountain meadows at 3500 to 11,000ft elevation in southwestern North America, the Sierra Nevada and Rocky Mountains, and as far north as Washington State. It grows 1 to 2 meters tall, with an erect, unbranched, heavily leafy stem resembling a...
by pregnant sheep have also been associated with cleft formation.
Difficulty with nursing is the most common problem associated with clefts, but aspiration pneumonia
Aspiration pneumonia
Aspiration pneumonia is bronchopneumonia that develops due to the entrance of foreign materials into the bronchial tree, usually oral or gastric contents...
, regurgitation
Regurgitation (digestion)
Regurgitation is the expulsion of material from the mouth, pharynx, or esophagus, usually characterized by the presence of undigested food or blood.Regurgitation is used by a number of species to feed their young...
, and malnutrition
Malnutrition
Malnutrition is the condition that results from taking an unbalanced diet in which certain nutrients are lacking, in excess , or in the wrong proportions....
are often seen with cleft palate and is a common cause of death. Providing nutrition through a feeding tube
Feeding tube
A feeding tube is a medical device used to provide nutrition to patients who cannot obtain nutrition by swallowing. The state of being fed by a feeding tube is called gavage, enteral feeding or tube feeding...
is often necessary, but corrective surgery in dogs can be done by the age of twelve weeks. For cleft palate, there is a high rate of surgical failure resulting in repeated surgeries. Surgical techniques for cleft palate in dogs include prosthesis
Prosthesis
In medicine, a prosthesis, prosthetic, or prosthetic limb is an artificial device extension that replaces a missing body part. It is part of the field of biomechatronics, the science of using mechanical devices with human muscle, skeleton, and nervous systems to assist or enhance motor control...
, mucosal flaps, and microvascular free flaps. Affected animals should not be bred due to the hereditary nature of this condition.
See also
- Smile PinkiSmile PinkiSmile Pinki is a 39-minute documentary directed by Megan Mylan. The film shows the story of a poor girl in rural India whose life is transformed when she receives free surgery to correct her cleft lip...
- Palatal obturatorPalatal obturatorA palatal obturator is a prosthesis that totally occludes an opening such as an orinasal fistula . They are similar to dental retainers, but without the front wire. Palatal obturators are typically short-term prosthetics used to close defects of the hard/soft palate that may affect speech...
- Vomer flap surgeryVomer flap surgeryVomer flap surgery was used prior to 1975 as a surgical treatment for children with cleft palate. In this procedure, the vomer bone was used to reconstruct the palate and cover the cleft.- Vomer flap procedure :...
- Cleft lip and palate organisationsCleft lip and palate organisations- Africa :* UK-based charity that helps children with facial disfigurements in Ethiopia* South African-based charity that helps children with cleft lips, cleft palates and facial disfigurements in Africa-Australia:...