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52-410: Among Americans the frequency of T-homozygosity ranges from 1% or less among people of sub-Saharan African descent to 20% or more among Italians and Hispanics. It has been related to In 2000 association studies on oral clefts , Down syndrome , and fetal anticonvulsant syndrome were either unreplicated or had yielded conflicting results. A1298C is a SNP in the same gene. Studies have investigated

104-440: 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

156-768: A cleft. However, as they grow older and their social interactions increase, children with clefts tend to report more dissatisfaction with peer relationships and higher levels of social anxiety . Experts conclude that this is probably due to the associated stigma of visible deformities and possible speech impediments . Children who are judged as attractive tend to be perceived as more intelligent, exhibit more positive social behaviors, and are treated more positively than children with cleft lip or cleft palate. Children with clefts tend to report feelings of anger, sadness, fear, and alienation from their peers, but these children were similar to their peers in regard to "how well they liked themselves." The relationship between parental attitudes and

208-405: 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, 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

260-408: A number of other psychoactive drugs (e.g. cocaine , crack cocaine , heroin ). Current research continues to investigate the extent to which folic acid can reduce the incidence of clefting. Folic acid alone or in combination with vitamins and minerals prevents neural tube defects but does not have a clear effect on cleft lip palate incidence. The mechanism behind beneficial folate supplementation

312-458: 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

364-512: A research on mutations in the gene PHF8 . The research 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 factor considered important from reports on increased incidence of cleft lip/palate in mice that have been exposed to hypoxia early during pregnancy. Cleft lip and other congenital abnormalities have also been linked to maternal hypoxia caused by maternal smoking , with

416-421: 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

468-555: A variety of factors such as environment and genetics or an unknown cause. Nonsyndromic clefts, which are not as common as syndromic clefts, also have a genetic cause. Genetic factors contributing to cleft lip and cleft palate formation have been identified for some syndromic cases. Many clefts run in families, even though in some cases there does not seem to be an identifiable syndrome present. A number of genes are involved including cleft lip and palate transmembrane protein 1 and GAD1 , One study found an association between mutations in

520-469: 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. 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. Palate cleft can occur as complete (soft and hard palate, possibly including

572-543: Is beginning to be shaped by their peers. A cleft lip or cleft palate may affect the behavior of preschoolers. Experts suggest that parents discuss with their children ways to handle negative social situations related to their cleft lip or cleft palate. A child who is entering school should learn the proper (and age-appropriate) terms related to the cleft. The ability to confidently explain the condition to others may limit feelings of awkwardness and embarrassment and reduce negative social experiences. As children reach adolescence,

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624-403: Is done for two reasons. Firstly the group of muscles required to purse the lips run through the upper lip. 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

676-453: Is due to folate playing a pivotal role in DNA synthesis and methylation and contributes to both development and gene expression. Traditionally, the diagnosis is made at the time of birth by physical examination. Recent advances in prenatal diagnosis have allowed obstetricians to diagnose facial clefts in utero with ultrasonography . Clefts can also affect other parts of the face, such as

728-582: Is often done in the first few months of life for cleft lip and before eighteen months for cleft palate. Speech therapy and dental care may also be needed. With appropriate treatment, outcomes are good. Cleft lip and palate occurs in about 1 to 2 per 1000 births in the developed world . Cleft lip is about twice as common in males as females, while cleft palate without cleft lip is more common in females. In 2017, it resulted in about 3,800 deaths globally, down from 14,600 deaths in 1990. Cleft lips are commonly known as hare-lips because of their resemblance to

780-436: Is thought to have a significant role in the development of some warm-blooded animals. The separation of the mouth from the nasal cavity also allowed chewing and breathing to occur at the same time. Early creatures with secondary palates include crocodilians (who are cold-blooded), and cynodonts and a few others among the therapsids , known from the fossil record in the mid- Permian . Mammals inherited our hard palates from

832-467: 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: 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

884-478: The HYAL2 gene and cleft lip and cleft palate formation. In some cases, cleft palate is caused by syndromes that also cause other problems: 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

936-642: The Haberman Feeder . Another equipment commonly used for gravity feeding is a customized bottle with a combination of nipples and bottle inserts. 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 may eventually lead to hearing loss. The Eustachian tubes and external ear canals may be angled or tortuous, leading to food or other contamination of

988-453: The hard or soft palate , in various combinations. Proposed anatomic combinations include: Cleft lip with or without palate is classified as the most common congenital birth defect. It has been noted that the prevalence of orofacial clefts varies by race. The highest number of cases have been recorded among Asians and Native Americans, followed by Europeans, Hispanics and African-Americans. The critical period for cleft development ranges from

1040-744: The inside of the nose . 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 mouth and inside the nose is called velopharyngeal insufficiency (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 stops and posterior nasal fricatives ). Possible treatment options include speech therapy , prosthetics, augmentation of

1092-561: 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. It forms the majority of the adult palate and meets the primary palate at the incisive foramen . Secondary palate development begins in the sixth week of pregnancy and can lead to cleft palate when development goes awry. There are three major mechanisms known to cause this failure: The secondary palate

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1144-400: The 4th to the 12th week of intrauterine life. Clefts of the primary palate develop between the 4th and 7th weeks of intrauterine life, while clefts of the secondary palate develop between the 8th and 12th embryonic weeks. Accurate evaluation of craniofacial malformations is usually possible with the ultrasound scan performed during pregnancy. This is however not a routine procedure according to

1196-557: The American Institute of Ultrasound in Medicine. The accuracy of ultrasonography for prenatal diagnosis of cleft lip +/- palate is dependent on the experience of the sonologist, maternal body type, foetal position, the amount of amniotic fluid and the type of cleft. Prenatal diagnosis enables appropriate and timely education and discussion with parents by the cleft team. This helps improve the quality of treatment received by

1248-467: The aid of a speech therapist. Tentative evidence has found that those with clefts perform less well at language. There is research dedicated to the psychosocial development of individuals with cleft palate. A cleft palate/lip may impact an individual's self-esteem , social skills and behavior . Self-concept may be adversely affected by the presence of a cleft lip or cleft palate, particularly among girls. Negative outcomes can also be associated with

1300-790: 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 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. Most clefts are polygenic and multifactorial in origin with many genetic and environmental factors contributing. Genetic factors cause clefts in 20% to 50% of

1352-459: The cases and the remaining clefts are attributable to either environmental factors (such as teratogens ) or gene-environment interactions. The polygenic/multifactorial inheritance model predicts that most individuals will be born without clefts; however with a number of genetic or environmental factors, it can result in cleft formation. The development of the face is coordinated by complex morphogenetic events and rapid proliferative expansion, and

1404-448: The child and improves quality of life. An accurate prenatal diagnosis of the CLP anomaly is critical for establishing long-term treatment planning, prediction of treatment outcome, and discussion and education of the parent. Although there is no intrauterine treatment for CLP, both mother and child benefit from early diagnosis and education. A multidisciplinary team approach is now accepted as

1456-479: 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 fourth or fifth month. After it is in place, the doctor, or parents, turn a screw daily to bring the cleft together to assist with future lip or palate repair. Secondary palate The secondary palate is an anatomical structure that divides

1508-417: 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

1560-533: 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

1612-534: The cleft lip separation. The obturator will improve speech as there's now proper airflow and improve feeding and breathing as the gap in the hard and soft palate is closed over so cannot affect it. 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

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1664-422: The cleft. Within the first 2–3 months after birth, surgery 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/dL hemoglobin). If

1716-533: The combined effect of C677T and A1298C. Oral cleft A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose . The term orofacial cleft refers to either condition or to both occurring together. These disorders can result in feeding problems, speech problems, hearing problems, and frequent ear infections . Less than half

1768-456: The effect, however, is unknown and requires further research. Some forms of maternal hypertension treatment have been linked to cleft lip and palate. Other environmental factors that have been studied include seasonal causes (such as pesticide exposure); maternal diet and vitamin intake; retinoids (members of the vitamin A family); anticonvulsant drugs; nitrate compounds; organic solvents; parental exposure to lead; alcohol; cigarette use; and

1820-419: The estimated attributable fraction of orofacial clefts due to smoking in early pregnancy being 6.1%. Orofacial clefts occur very early in pregnancy and so smoking cessation right after recognition of pregnancy is unlikely to reduce the exposure during the critical time period. Maternal alcohol use has also been linked to cleft lip and palate due to the effects on the cranial neural crest cells. The degree of

1872-421: The eyes, ears, nose, cheeks, and forehead. In 1976, Paul Tessier described fifteen lines of cleft. Most of these craniofacial clefts are even rarer and are frequently described as Tessier clefts using the numerical locator devised by Tessier. Cleft lip and cleft palate is an "umbrella term" for a collection of orofacial clefts. It includes clefting of the upper lip, the maxillary alveolus (dental arch), and

1924-421: The failure of fusion of the maxillary prominence 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 underneath the scar is affected and might require reconstructive surgery. It

1976-419: 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 . Environmental influences may also cause, or interact with genetics to produce, orofacial clefts. An example of the link between environmental factors and genetics comes from

2028-546: 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 and are looked after by craniofacial cleft teams often consist of: cleft surgeons, orthodontists , speech and language therapists, restorative dentists , psychologists , ENT surgeons and audio-logical physicians. Treatment procedures can vary between craniofacial teams. For example, some teams wait on jaw correction until

2080-409: The lateral incisors are missing. The enamel (outermost layer of the tooth) is commonly found to be hypomineralized and hypoplastic, making the teeth more likely to decay. As CLP can make oral hygiene more difficult, there is an increased rate of cavities. In addition, abnormal positioning of individual teeth may affect occlusion, which can create an open bite or cross bite. This in turn can then affect

2132-400: The lips of hares or rabbits. 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) condition. It is due to

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2184-467: 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

2236-402: The long durations of hospitalization. Psychological issues could extend not just to the individual with CLP but also to their families, particularly their mothers, that experience varying levels of depression and anxiety. Research has shown that during the early preschool years (ages 3–5), children with cleft lip or cleft palate tend to have a self-concept that is similar to their peers without

2288-481: 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. Orofacial clefts may be associated with a syndrome (syndromic) or may not be associated with a syndrome (nonsyndromic). Syndromic clefts are part of syndromes that are caused by

2340-489: The muscles of the soft palate are not joined, the mucosal membranes covering the roof of the mouth appear relatively normal and intact. Tooth development can be delayed with increasing severity of CLP. Some of the dental problems affect the primary teeth , but most of the problems arise after the permanent teeth erupt. Problems may include fused teeth, missing teeth, and extra teeth erupting behind normal teeth. Missing teeth or extra teeth are both normal occurrences. Typically,

2392-453: The patient's speech. Cleft may cause problems with feeding, ear disease, speech, socialization, and cognition. 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

2444-445: The period of time between age 13 and 19, the dynamics of the parent-child relationship change as peer groups are now the focus of attention. An adolescent with cleft lip or cleft palate will deal with the typical challenges faced by most of their peers including issues related to self-esteem, dating and social acceptance. Adolescents, however, view appearance as the most important characteristic, above intelligence and humor. This being

2496-400: The posterior pharyngeal wall, lengthening of the palate, and surgical procedures . Submucous cleft palate can also occur, which is a cleft of the soft palate with a split uvula , a furrow along the midline of the soft palate, and a notch in the back margin of the hard palate. The diagnosis of submucous cleft palate often occurs late in children as a result of the nature of the cleft. While

2548-416: The standard of care in dealing with CLP patients. The time period immediately after the diagnosis and the first year after the birth is most challenging for parents. A systematically planned treatment plan and support system will help assist parents. The ultimate aim is to help educate parents and create awareness so as to improve care provided for the child. Cleft lip and palate is very treatable; however,

2600-403: The surgeon more tissue to work with, creating a more supple and natural-looking upper lip. In some cases of a severe bilateral complete cleft, the premaxillary segment will be protruded far outside the mouth. Nasoalveolar molding prior to surgery can improve long-term nasal symmetry where there is complete unilateral cleft lip–cleft palate, compared to correction by surgery alone, according to

2652-476: The surgery-alone group and 96.5 percent in the nasoalveolar molding group," this study concluded. A systematic review found in conclusion that nasoalveolar molding had a positive effect on the primary surgery of cleft lip/or palate treatment and aesthetics. Often a cleft palate is temporarily covered by a palatal obturator (a prosthetic device made to fit the roof of the mouth covering the gap). This device re-positions displaced alveolar segments and helps reduce

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2704-575: The time the condition is associated with other disorders. Cleft lip and palate are the result of tissues of the face not joining properly during development . As such, they are a type of birth defect . The cause is unknown in most cases. Risk factors include smoking during pregnancy , diabetes , obesity , an older mother , and certain medications (such as some used to treat seizures ). Cleft lip and cleft palate can often be diagnosed during pregnancy with an ultrasound exam . A cleft lip or palate can be successfully treated with surgery. This

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