| Craniofacial abnormality | |
|---|---|
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| Human skull | |
| Specialty | Medical genetics  |
Craniofacial abnormalities are congenital musculoskeletal disorders which primarily affect the cranium and facial bones. [1]
They are associated with the development of the pharyngeal arches. [2] Approximately, 5% of the UK or USA population present with dentofacial deformities requiring Orthognathic surgery, jaw surgery, and Orthodontics, brace therapy, as a part of their definitive treatment. [3] [4] [5]
Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning 'curving of joints'.
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.
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.
In orthodontics, a malocclusion is a misalignment or incorrect relation between the teeth of the upper and lower dental arches when they approach each other as the jaws close. The English-language term dates from 1864; Edward Angle (1855–1930), the "father of modern orthodontics", popularised it. The word "malocclusion" derives from occlusion, and refers to the manner in which opposing teeth meet.
Craniofacial surgery is a surgical subspecialty that deals with congenital and acquired deformities of the head, skull, face, neck, jaws and associated structures. Although craniofacial treatment often involves manipulation of bone, craniofacial surgery is not tissue-specific; craniofacial surgeons deal with bone, skin, nerve, muscle, teeth, and other related anatomy.
Diprosopus, also known as craniofacial duplication, is an extremely rare congenital disorder whereby parts (accessories) or all of the face are duplicated on the head.
Anodontia is a rare genetic disorder characterized by the congenital absence of all primary or permanent teeth. It is divided into two subsections, complete absence of teeth or only some absence of teeth. It is associated with the group of skin and nerve syndromes called the ectodermal dysplasias. Anodontia is usually part of a syndrome and seldom occurs as an isolated entity. There is usually no exact cause for anodontia. The defect results in the dental lamina obstruction during embryogenesis due to local, systemic and genetic factors.
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.
Facial trauma, also called maxillofacial trauma, is any physical trauma to the face. Facial trauma can involve soft tissue injuries such as burns, lacerations and bruises, or fractures of the facial bones such as nasal fractures and fractures of the jaw, as well as trauma such as eye injuries. Symptoms are specific to the type of injury; for example, fractures may involve pain, swelling, loss of function, or changes in the shape of facial structures.
Cephalometric analysis is the clinical application of cephalometry. It is analysis of the dental and skeletal relationships of a human skull. It is frequently used by dentists, orthodontists, and oral and maxillofacial surgeons as a treatment planning tool. Two of the more popular methods of analysis used in orthodontology are the Steiner analysis and the Downs analysis. There are other methods as well which are listed below.
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.
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.
Constriction ring syndrome (CRS) is a congenital disorder with unknown cause. Because of the unknown cause there are many different, and sometimes incorrect names. It is a malformation due to intrauterine bands or rings that give deep grooves in, most commonly, distal extremities like fingers and toes. In rare cases the constriction ring can form around other parts of the fetus and cause amputation or even intrauterine death. The anatomy proximal to the site of constriction is developmentally normal. CRS can be associated with other malformations with club foot being most common. The precise configuration of the bands, lymphedema, and character of the amputations are not predictable and vary with each individual patient. Also, more than one extremity is usually affected, and it is rare for only one ring to present as an isolated malformation with no other manifestation of this syndrome.
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.
Condylar hypoplasia is known as underdevelopment of the mandibular condyle. Congenitally (primary) caused condylar hypoplasia leads to underdeveloped condyle at birth. Hypoplasia of mandible can be diagnosed during birth, in comparison to the hyperplasia which is only diagnosed later in growth of an individual.
Orthodontic indices are one of the tools that are available for orthodontists to grade and assess malocclusion. Orthodontic indices can be useful for an epidemiologist to analyse prevalence and severity of malocclusion in any population.
It is estimated that nearly 30% of the general population present with malocclusions that are in great need of orthodontic treatment. However, the term dentofacial deformity describes an array of dental and maxillo-mandibular abnormalities, often presenting with a malocclusion, which is not amenable to orthodontic treatment alone and definitive treatment needs surgical alignment of upper/lower jaws or both. Individuals with dentofacial deformities often present with lower quality of life and compromised functions with respect to breathing, swallowing, chewing, speech articulation, and lip closure/posture. It is estimated that about 5% of general population present with dentofacial deformities that are not amenable to orthodontic treatment only.
Craniofacial regeneration refers to the biological process by which the skull and face regrow to heal an injury. This page covers birth defects and injuries related to the craniofacial region, the mechanisms behind the regeneration, the medical application of these processes, and the scientific research conducted on this specific regeneration. This regeneration is not to be confused with tooth regeneration. Craniofacial regrowth is broadly related to the mechanisms of general bone healing.
Mandibular setback surgery is a surgical procedure performed along the occlusal plane to prevent bite opening on the anterior or posterior teeth and retract the lower jaw for both functional and aesthetic effects in patients with mandibular prognathism. It is an orthodontic surgery that is a form of reconstructive plastic surgery. There are three main types of procedures for mandibular setback surgery: Bilateral Sagittal Split Osteotomy (BSSO), Intraoral Vertical Ramus Osteotomy (IVRO) and Extraoral Ramus Osteotomy (EVRO), depending on the magnitude of mandibular setback for each patient. Postoperative care aims to minimise postoperative complications, complications includes bite changes, relapse and nerve injury.
Joel Ferri is a French Stomatologist, Oral and Maxillofacial Surgeon, academic and author. He is the chairman and head of the Department of Oral and Maxillofacial Surgery at the Lille Medical School.
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