Craniofacial abnormality

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Craniofacial abnormality
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Human skull
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Craniofacial abnormalities are congenital musculoskeletal disorders which primarily affect the cranium and facial bones. [1]

Contents

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]

Notable conditions

Related Research Articles

Arthrogryposis Medical condition

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 Human genetic 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.

Orthognathic surgery Surgery of the jaw

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, other orthodontic dental bite problems that cannot be easily treated with braces, as well as the broad range of facial imbalances, disharmonies, asymmetries and malproportions where correction can be considered to improve facial aesthetics and self esteem.

Malocclusion Medical condition

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 Medical disorder

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.

Tooth impaction Prevention of tooth eruption by a physical barrier

An impacted tooth is one that fails to erupt into the dental arch within the expected developmental window. Because impacted teeth do not erupt, they are retained throughout the individual's lifetime unless extracted or exposed surgically. Teeth may become impacted because of adjacent teeth, dense overlying bone, excessive soft tissue or a genetic abnormality. Most often, the cause of impaction is inadequate arch length and space in which to erupt. That is the total length of the alveolar arch is smaller than the tooth arch. The wisdom teeth are frequently impacted because they are the last teeth to erupt in the oral cavity. Mandibular third molars are more commonly impacted than their maxillary counterparts.

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 Medical condition

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 Medical condition

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.

William Harrison Bell was an American Oral and Maxillofacial Surgeon and a Professor of Surgery who is known for his contributions to the field of Orthognathic Surgery. Dr. Bell's groundbreaking research provided a biologic basis for the Le Fort I osteotomy and other orthognathic surgical procedures used to reposition the facial skeleton. Active throughout his life, his later work provided a biologic rationale for distraction osteogenesis of the facial skeleton, a technique used to gradually lengthen bone at a rate of 1mm a day. A prolific author, his publications provided a thorough description of the diagnosis and management of dentofacial deformity, surgical technique, and detailed figures that illustrated the operations in sufficient detail that would provide generations of surgeons the necessary information from which to apply a surgical-orthodontic approach to facial deformity. He is credited in the United States with pioneering the transition of the field of Oral Surgery to become Oral and Maxillofacial Surgery.

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.

Andrew A.C. Heggie is an oral and maxillofacial surgeon at the Royal Children's Hospital in Melbourne, Australia. His primary interest has been the management of developmental skeletal facial deformity, including patients with cleft lip and palate, craniofacial microsomia and infants with micrognathism. His contribution to the treatment of infant upper airway obstruction for Pierre Robin sequence, using internal devices for jaw lengthening using distraction osteogenesis, has replaced the need for tracheostomy in this condition. In 2019, Heggie was awarded Member of the Order of Australia for significant service to medicine and dentistry in the field of oral and maxillofacial surgery.

References

  1. "WHO – Craniofacial abnormalities". Archived from the original on August 23, 2004.
  2. "Craniofacial Abnormalities: Congenital Craniofacial and Musculoskeletal Abnormalities: Merck Manual Professional".
  3. Posnick, Jeffrey C. (September 2013). Orthognatic Surgery: Principles and Practice. Amsterdam: Elsevier. pp. 61–68. doi:10.1016/B978-1-4557-2698-1.00003-4. ISBN   978-145572698-1.
  4. Harrington C, Gallagher JR, Borzabadi-Farahani A (2015). "A retrospective analysis of dentofacial deformities and orthognathic surgeries using the index of orthognathic functional treatment needs (IOFTN)". Int J Pediatr Otorhinolaryngol. 79 (7): 1063–6. doi:10.1016/j.ijporl.2015.04.027. PMID   25957779.
  5. Borzabadi-Farahani A, Eslamipour F, Shahmoradi M (2016). "Functional needs of subjects with dentofacial deformities: A study using the index of orthognathic functional treatment need (IOFTN)". J Plast Reconstr Aesthet Surg. 69 (6): 796–801. doi:10.1016/j.bjps.2016.03.008. PMID   27068664.