NationMaster - Encyclopedia: Apert syndrome

Apert Syndrome, virtually synonymous with Acrocephalosyndactyly, is a branchial arch syndrome, resulting from a developmental anomaly. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in its development create lasting and widespread effects. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... MedlinePlus (medlineplus. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... In the development of vertebrate animals, the branchial arches (or pharyngeal arches) develop during the fourth and fifth week in utero as a series of mesodermal outpouchings on the left and right sides of the developing pharynx. ... The maxillae are the largest bones of the face, except for the mandible, and form, by their union, the whole of the upper jaw. ... The mandible (from Latin mandibÅla, jawbone) or inferior maxillary bone is, together with the maxilla, the largest and strongest bone of the face. ... For other uses, see Embryo (disambiguation). ...

Overview

In 1906, Eugène Apert, a French physician, first described nine people with a similar disorder. Since he was the first to do so, his name is associated with the syndrome.^[1] 1906 (MCMVI) was a common year starting on Monday (see link for calendar). ... EugÃ¨ne Charles Apert (July 27, 1868 - February 2, 1940) was a French pediatrician who was born in Paris. ...

Breaking down the name of this disorder, “acro” means “peak” in Greek and refers to the “peaked” heads of some people with this syndrome. Syndactyly refers to the webbing of fingers and toes.

What occurs in embryology is that hands and feet are supposed to have some selective cells die (known as selective cell death or apoptosis to separate the fingers and toes. In the case of acrocephalosyndactyly, selective cell death does not occur, and fusion of skin, and sometimes bone, between the fingers and toes occur. This article or section is in need of attention from an expert on the subject. ... A section of mouse liver showing an apoptotic cell indicated by an arrow // Apoptosis is a process of deliberate life relinquishment by a cell in a multicellular organism. ...

As in Crouzon syndrome and Pfeiffer syndrome, the bones of the skull are affected as well. Craniosynostosis results from the infant’s skull and facial bones fusing early while in development, disrupting normal bone growth. Fusion of different sutures lead to different patterns of growth of the skull. Examples include: trigonocephaly (fusion of the metopic suture), brachycephaly (fusion of the coronal suture), dolichocephaly (fusion of the sagittal suture), plagiocephaly (fusion of coronal and lambdoidal sutures unilaterally), oxycephaly (fusion of coronal and lambdoidal sutures). Crouzon Syndrome is a genetic disorder known as a branchial arch syndrome. ... Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. ... Craniosynostosis is a medical medical condition in which some or all of the sutures in the skull of an infant close too early, causing problems with normal brain and skull growth. ... Trigonocephaly is a type of cephalic disorder. ... Brachycephaly is a type of cephalic disorder. ... A human skull and measurement device from 1902. ... Plagiocephaly is a type of cephalic disorder. ... Oxycephaly is a type of cephalic disorder. ...

Causes

There is some support that acrocephalosyndactyly occurs in an autosomal dominant mode, but the basic defect is still unknown. Evidence for this is that males and females are affected equally. It has been suggested that this article or section be merged into Dominance relationship. ...

Nonetheless, almost all cases are sporadic, signifying that most are attributable to fresh mutations or an environmental insult to the genetic code. Offspring of a parent with Apert syndrome stand a 50% chance of inheriting the condition.

In 1995, A.O.M Wilkie, along with other researchers, published a paper showing evidence of a relationship between acrocephalosyndactyly and a gene, called Fibroblast growth factor receptor 2, on chromosome 10. For a non-technical introduction to the topic, see Introduction to Genetics. ... So far, four distinct membrane FGFR have been identified in vertebrates and all of them belong to the tyrosine kinase superfamily (FGFR1 to FGFR4). ... Chromosome 10 is one of the 23 pairs of chromosomes in humans. ...

There is also some evidence that the age of the father is related to this syndrome. This stands in stark contrast to Down Syndrome, where the age of the mother is positively correlated with the risk of having a child with the syndrome. It is speculated that older fathers are more likely to have mutations in the chromosomes of their sperm, but a correlation to this disorder has not been established through scientific research.

Symptoms

The cranial malformations are the most apparent effects of acrocephalosyndactyly. Cranial synostosis occurs, as explained above, with Brachiocephaly being the common pattern of growth. Additionally, a common characteristic is a high, prominent forehead and a flat posterior skull. Due to the premature closing of sutures of the skull, increased cranial pressure develops which sometimes leads to mental deficiency. Nonetheless, this is not always the case since some of these people possess normal intelligence. Furthermore, a flat or concave face may develop because of a deficient growth in the mid-facial bones, leading to a condition known as pseudomandibular prognathism. Other features of acrocephalosyndactyly may be shallow bony orbits and broadly spaced eyes.

Low-set ears is also a typical characteristic, as is with all of these disorders that are called branchial arch syndromes. The reason for this is that in fetal life all ears are much lower than what we are accustomed to seeing. During normal development, the ears "travel" upward on the head but, in these cases, the ears do not follow this normal pattern of development since these syndromes have the greatest effects on the head.

The major attribute of this syndrome is syndactyly of the hands and feet. Commonly there is fusion of fingers or toes with usually an equal amount on both sides. It is usual for the middle 3 fingers to be fused together. This appearance is the characteristic for which acrocephalosyndactyly is named. The thumb and big toe may be broad and malformed. This disorder is progressive with age as the joints continue to appear present but are immovable.

Treatments

Surgery is needed to prevent the closing of sutures in the skull from damaging brain development. Combined orthodontic and orthognathic surgery can help to relieve some of the facial deformities, such as the flat or concave face. In particular, the LeFort III, a surgical procedure, can be used to detach the midface from the rest of the skull to reposition it appropriately. Additionally, aggressive surgery is needed to separate as many fingers and toes as possible in life. orthodontic treatment of crowded teeth; the canine is being pulled down into proper position with highly flexible co-axial wire After 10 months of fixed orthodontic treatment. ... Orthognathic surgery is surgery to correct conditions of the jaw and face related to structure, growth, sleep apnea, or to assist in orthodontic treatment. ...

Dental significance

For dentists, this disorder is very important to understand since most of the physical abnormalities are presented in the head, and particularly the oral cavity. Common relevant features of acrocephalosyndactyly are a high-arched palate, pseudomandibular prognathism (appearing as mandibular prognathism), a short width of the palate, and crowding of the teeth. X-rays can reveal if a person has cavities Dentistry is the practical application of knowledge of dental science (the science of placement, arrangement, function of teeth) to human beings. ... The mouth, also known as the buccal cavity or the oral cavity, is the opening through which an animal or human takes in food. ... This article or section is in need of attention from an expert on the subject. ...

See also

Crouzon Syndrome is a genetic disorder known as a branchial arch syndrome. ... Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. ... Hearing loss with craniofacial syndromes is a common occurrence. ... Saethre-Chotzen syndrome, also known as acrocephalosyndactyly type 3 (ACS III) and Chotzen syndrome is a very rare congenital syndrome characterised by craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). ...

References

Who Named It is a Norwegian database of several thousand eponymous medical signs and the doctors associated with their identification. ...

External links

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