| Maxillary hypoplasia | |
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| Specialty | Maxillofacial surgery |
Maxillary hypoplasia, or maxillary deficiency, is an underdevelopment of the bones of the upper jaw. It is associated with Crouzon syndrome, Angelman syndrome, as well as Fetal alcohol syndrome. It can also be associated with Cleft lip and cleft palate. Some people could develop it due to poor dental extractions. [1]
The underdevelopment of the bones in the upper jaw, which gives the middle of the face a sunken look. [1] This same underdevelopment can make it difficult to eat and can lead to complications such as Nasopharyngeal airway restriction. This restriction causes forward head posture which can then lead to back pain, neck pain, and numbness in the hands and arms. The nasopharyngeal airway restriction can also lead to Sleep apnea and snoring. Sleep apnea can lead to heart problems, endocrine problems, increased weight, and cognition problems, among other issues. [2]
Although the exact genetic link for isolated maxillary hypoplasia has not been identified, the structure of the facial bones as a whole relies on genetic inheritance and therefore there is likely an inheritance pattern. Maxillary hypoplasia can be present as part of genetic syndromes such as Angelman syndrome. Fetal alcohol syndrome is associated with maxillary hypoplasia. Injury to facial bones during childhood can lead to atypical growth. Exposure to Phenytoin in the first trimester of pregnancy has also been associated with the development of maxillary hypoplasia. [3]
Abnormal development of the bones of the upper face which is usually a secondary effect of a different developmental abnormality. When associated with cleft lip and palate, the abnormal development can be due to deficiency in the ability to grow because of the cleft lip or palate. The underdevelopment can also be caused by scarring from surgical repair of a cleft lip or palate. [4]
Diagnosed mainly on visual inspection. The cheekbones and nose appear flat with thin lips and the lower jaw appears to be protruding even though it is normal in size. Computed tomography scan CT scan can be performed to compare the size of the Maxilla and Mandible. Computed tomography scan.
Corrective surgery is the most common treatment to correct this disorder. It involves the repositioning of the upper jaw to align with the lower jaw, to provide symmetry. The surgery may be performed in consultation with an Orthodontist who works on repositioning the teeth in the mouth. [1] Severe cases require surgical correction after completing craniofacial growth around age 17-21. [5] Milder forms without obstruction can be corrected for cosmetic reasons using veneers, snap in smiles, and overlay dentures [6]
When associated with nasopharyngeal occlusion, the person is more likely to spend their days in forward head posture which may lead to back pain, neck pain and numbness in the arms and hands. It can also lead to sleep apnea and snoring. [6] People can generally live a relatively normal life with maxillary hypoplasia. Normal life expectancy.
The recovery time after the surgery depends on the extent of the surgery itself. Patients are usually advised to eat soft foods for days, or sometimes weeks, to allow their jaw time to heal. They also require regular checkups with the doctor to monitor bone displacement, signs of infection, or other issues. [1]
Maxillary hypoplasia is the most common secondary deformity that results from cleft lip and cleft palate. Because of the subjective nature of the diagnosis, the incidence of maxillary hypoplasia in people with cleft lip and palate varies between 15-50%. It is estimated that 25-50% of these patients require surgical intervention. [7]
Research on the topic of maxillary hypoplasia is currently focused on the best way to treat and manage the disorder. A retrospective study was published in January 2020 that evaluated the accuracy of virtual surgical planning-assisted management of maxillary hypoplasia. The study found that virtual surgical planning was an acceptable alternative to conventional planning and demonstrated to be very accurate. [8]
Human teeth function to mechanically break down items of food by cutting and crushing them in preparation for swallowing and digesting. As such, they are considered part of the human digestive system. Humans have four types of teeth: incisors, canines, premolars, and molars, which each have a specific function. The incisors cut the food, the canines tear the food and the molars and premolars crush the food. The roots of teeth are embedded in the maxilla or the mandible and are covered by gums. Teeth are made of multiple tissues of varying density and hardness.
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 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 the time the condition is associated with other disorders.
Upper airway resistance syndrome (UARS) is a sleep disorder characterized by the narrowing of the airway that can cause disruptions to sleep. The symptoms include unrefreshing sleep, fatigue, sleepiness, chronic insomnia, and difficulty concentrating. UARS can be diagnosed by polysomnograms capable of detecting Respiratory Effort-related Arousals. It can be treated with lifestyle changes, functional orthodontics, surgery, mandibular repositioning devices or CPAP therapy. UARS is considered a variant of sleep apnea, although some scientists and doctors believe it to be a distinct disorder.
Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree to which a person is affected, however, may vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss. Those affected generally have normal intelligence.
Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial arch, which is the precursor of the maxilla and mandible. Because the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects. The syndrome is caused by a mutation in a gene on chromosome 10 that controls the body's production of fibroblast growth factor receptor 2 (FGFR2).
Orthognathic surgery, also known as corrective jaw surgery or simply jaw surgery, is surgery designed to correct conditions of the jaw and lower face related to structure, growth, airway issues including sleep apnea, TMJ disorders, malocclusion problems primarily arising from skeletal disharmonies, and other orthodontic dental bite problems that cannot be treated easily with braces, as well as the broad range of facial imbalances, disharmonies, asymmetries, and malproportions where correction may be considered to improve facial aesthetics and self-esteem.
A palatal expander is a device in the field of orthodontics which is used to widen the upper jaw (maxilla) so that the bottom and upper teeth will fit together better. This is a common orthodontic procedure. The use of an expander is most common in children and adolescents 8–18 years of age. It can also be used in adults, although expansion is more uncomfortable and takes longer in adults. A patient who would rather not wait several months for the end result achieved by a palatal expander may be able to opt for a surgical separation of the maxilla. Use of a palatal expander is most often followed by braces to then straighten the teeth.
Sprengel's deformity is a rare congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back than the other. The deformity is due to a failure in early fetal development where the shoulder fails to descend properly from the neck to its final position. Majority of the cases are sporadic with very few having autosomal dominant inheritance.
Pierre Robin sequence is a congenital defect observed in humans which is characterized by facial abnormalities. The three main features are micrognathia, which causes glossoptosis, which in turn causes breathing problems due to obstruction of the upper airway. A wide, U-shaped cleft palate is commonly also present. PRS is not merely a syndrome, but rather it is a sequence—a series of specific developmental malformations which can be attributed to a single cause.
Fetal hydantoin syndrome, also called fetal dilantin syndrome, is a group of defects caused to the developing fetus by exposure to teratogenic effects of phenytoin. Dilantin is the brand name of the drug phenytoin sodium in the United States, commonly used in the treatment of epilepsy.
3C syndrome is a rare condition whose symptoms include heart defects, cerebellar hypoplasia, and cranial dysmorphism. It was first described in the medical literature in 1987 by Ritscher and Schinzel, for whom the disorder is sometimes named.
Frontonasal dysplasia (FND) is a congenital malformation of the midface. For the diagnosis of FND, a patient should present at least two of the following characteristics: hypertelorism, a wide nasal root, vertical midline cleft of the nose and/or upper lip, cleft of the wings of the nose, malformed nasal tip, encephalocele or V-shaped hair pattern on the forehead. The cause of FND remains unknown. FND seems to be sporadic (random) and multiple environmental factors are suggested as possible causes for the syndrome. However, in some families multiple cases of FND were reported, which suggests a genetic cause of FND.
3-M syndrome or 3M3 is a rare hereditary disorder characterized by severe growth retardation, facial dysmorphia, and skeletal abnormalities. The name 3-M is derived from the initials of the three researchers who first identified it: Miller, McKusick, and Malvaux and report their findings in the medical literature in 1972. Mutations in any one of the following three genes: CUL7, OBSL1, and CCDC8 are responsible for the occurrence of this disorder. It is inherited through an autosomal recessive pattern and considered very rare, so far less than 100 cases worldwide have been identified. Diagnosis is based on the presence of clinical features. Genetic testing can confirm the diagnosis and identify the specific gene involved. Treatment is aimed at addressing the growth and skeletal problems and may include surgical bone lengthening, adaptive aids, and physical therapy. An endocrinologist may assist with growth hormone replacement and appropriate evaluations during puberty.
A jaw abnormality is a disorder in the formation, shape and/or size of the jaw. In general abnormalities arise within the jaw when there is a disturbance or fault in the fusion of the mandibular processes. The mandible in particular has the most differential typical growth anomalies than any other bone in the human skeleton. This is due to variants in the complex symmetrical growth pattern which formulates the mandible.
Binder's syndrome, Binder syndrome or maxillo-nasal dysplasia is a developmental disorder primarily affecting the anterior part of the maxilla and nasal complex. It is a rare disorder and the causes are unclear.
Roberts syndrome, or sometimes called pseudothalidomide syndrome, is an extremely rare autosomal recessive genetic disorder that is characterized by mild to severe prenatal retardation or disruption of cell division, leading to malformation of the bones in the skull, face, arms, and legs.
A facial cleft is an opening or gap in the face, or a malformation of a part of the face. Facial clefts is a collective term for all sorts of clefts. All structures like bone, soft tissue, skin etc. can be affected. Facial clefts are extremely rare congenital anomalies. There are many variations of a type of clefting and classifications are needed to describe and classify all types of clefting. Facial clefts hardly ever occur isolated; most of the time there is an overlap of adjacent facial clefts.
Long face syndrome, also referred to as skeletal open bite, is a relatively common condition characterised by excessive vertical facial development. Its causes may be either genetic or environmental. Long face syndrome is "a common dentofacial abnormality." Its diagnosis, symptomology and treatments are complex and controversial. Indeed, even its existence as a "syndrome" is disputed.
A high-arched palate is where the palate is unusually high and narrow. It is usually a congenital developmental feature that results from the failure of the palatal shelves to fuse correctly in development, the same phenomenon that leads to cleft palate. It may occur in isolation or in association with a number of conditions. It may also be an acquired condition caused by chronic thumb-sucking. A high-arched palate may result in a narrowed airway and sleep disordered breathing.
Alveolar cleft grafting is a surgical procedure, used to repair the defect in the upper jaw that is associated with cleft lip and palate, where the bone defect is filled with bone or bone substitute, and any holes between the mouth and the nose are closed.