NationMaster - Encyclopedia: Williams syndrome

Williams syndrome (also Williams-Beuren syndrome) is a rare genetic disorder,^[1] occurring in fewer than 1 in 20,000 live births. It is characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge; an unusually cheerful demeanor and ease with strangers, coupled with unpredictably occurring negative outbursts; mental retardation coupled with unusual (for persons who are diagnosed as mentally retarded) language skills; a love for music; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia. The syndrome was first identified in 1961 by Dr. J. C. P. Williams of New Zealand. ^[2] 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. ... 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. ... A genetic disorder is a condition caused by abnormalities in genes or chromosomes. ... Mental retardation is a term for a pattern of persistently slow learning of basic motor and language skills (milestones) during childhood, and a significantly below-normal global intellectual capacity as an adult. ... For other uses, see Music (disambiguation). ... Aortic valve stenosis (AS) is a heart condition caused by the incomplete opening of the aortic valve. ... Hypercalcaemia (or Hypercalcemia) is an elevated calcium level in the blood. ... J.C.P. Williams was a New Zealand cardiologist known for discovering Williams Syndrome in 1961, while working as the Registrar at Greenlane Hospital in Auckland. ...

Symptoms

Williams syndrome shares some similarities with autism (such as difficulty understanding the state of mind of conversational partners^[3]) and fetal alcohol syndrome (e.g., certain facial features, possible learning disabilities, and negative potential outbursts),^[4] although persons with Williams generally possess very good social skills, such that this condition is sometimes called "cocktail-party syndrome". There also appears to be a higher prevalence of left-handedness and left-eye dominance in those with Williams,^[5] and cases of absolute pitch appear to be significantly higher amongst those with the condition.^[6] Autism is a brain development disorder characterized by impairments in social interaction and communication, and restricted and repetitive behavior, all exhibited before a child is three years old. ... The phrase theory of mind (often abbreviated as ToM) is used in several related ways: general categories of theories of mind - theories about the nature of mind, and its structure and processes; theories of mind related to individual minds; in recent years, the phrase theory of mind has more commonly... Fetal alcohol syndrome or FAS is a disorder of permanent birth defects that occurs in the offspring of women who drink alcohol during pregnancy. ... Southpaw redirects here. ... It has been suggested that this article or section be merged into laterality. ... Absolute pitch (AP), widely referred to as perfect pitch, is the ability of a person to identify or sing a musical note without the benefit of a known reference. ...

Relativity and perception

Another symptom of Williams syndrome is lack of depth perception and an inability to visualize how different parts assemble into larger objects (in assembling jigsaw puzzles, for example). This problem is caused by a defect in the brain that creates a sparsity of tissue in the visual systems of the brain. When asked to perform tasks involving spatial relations, with their brains scanned by fMRI, people with Williams Syndrome showed weaker activity in the dorsal area of the brain, which is along the top and back of the brain and associated with vision and spatial relations.^{[citation needed]} (fMRI measures brain activity by measuring blood flow through different parts of the brain.) Depth perception is the visual ability to perceive the world in three dimensions. ... For the Rolling Stones song, see Jigsaw Puzzle A jigsaw puzzle is a tiling puzzle that requires the assembly of numerous small, often oddly shaped, interlocking and tessellating pieces. ... Human brain In animals, the brain (enkephale) (Greek for in the skull), is the control center of the central nervous system, responsible for behavior. ... Functional magnetic resonance imaging (fMRI) is the use of MRI to measure the haemodynamic response related to neural activity in the brain or spinal cord of humans or other animals. ...

When asked to copy a picture, those with Williams Syndrome drew the small details while those diagnosed with Down Syndrome drew the big picture (Navon Task).^[7] Down syndrome or trisomy 21 (usually Downs Syndrome in British English[1]) is a genetic disorder caused by the presence of all or part of an extra 21st chromosome. ...

Cause

Williams syndrome is caused by the deletion of genetic material from the region q11.2 of chromosome 7. The deleted region includes more than 20 genes, and researchers believe that the loss of several of these genes probably contributes to the characteristic features of this disorder. CLIP2, ELN, GTF2I, GTF2IRD1, and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. Researchers have found that loss of the ELN gene, which codes for the protein elastin, is associated with the connective-tissue abnormalities and cardiovascular disease (specifically supravalvular aortic stenosis (SVAS) and supravalvular pulmonary stenosis (SVPS)) found in many people with this syndrome. Studies suggest that deletion of LIMK1, GTF2I, GTF2IRD1, and perhaps other genes may help explain the characteristic difficulties with visual–spatial tasks. Additionally, there is evidence that the loss of several of these genes, including CLIP2, may contribute to the unique behavioral characteristics, learning disabilities, and other cognitive difficulties seen in Williams syndrome. ASL (argininosuccinate lyase) is a human gene that makes the protein argininosuccinate lyase, one of the enzymes controlling a series of reactions called the urea cycle. ... Elastin is a protein in connective tissue that is elastic and allows many tissues in the body to resume their shape after stretching or contracting. ... RNA expression pattern Orthologs Human Mouse Entrez Ensembl Uniprot Refseq Location Pubmed search Frizzled homolog 9 (Drosophila), also known as FZD9, is a human gene. ... For other uses, see Gene (disambiguation). ... Elastin is a protein in connective tissue that is elastic and allows many tissues in the body to resume their shape after stretching or contracting. ... Elastin is a protein in connective tissue that is elastic and allows many tissues in the body to resume their shape after stretching or contracting. ... Aortic valve stenosis (AS) is a heart condition caused by the incomplete opening of the aortic valve. ... Pulmonary valve stenosis is a medical condition in which outflow of blood from the right ventricle of the heart is obstructed at the level of the pulmonic valve. ...

In popular culture

Williams syndrome was featured in a 2007 episode of Law & Order: Special Victims Unit entitled "Savant," in which a girl with the condition is the only witness to the attack of her mother. The girl did not see the attacker but heard him speak, and her absolute pitch helped the police catch her mother's assailant. Law & Order: Special Victims Unit - Season 5 DVD Law & Order: Special Victims Unit (also known as Law & Order: SVU) is the first of three spin-offs of Law & Order (the other two being Law & Order: Criminal Intent and Law & Order: Trial by Jury; all series are presented on the NBC...

In the Wes Anderson film The Royal Tenenbaums, the character of Dudley has fictional Heinsbergen Syndrome, which features many similarities with Williams syndrome. Dudley has difficulty understanding spatial relations (dyslexia, colorblindness, inability to solve puzzles) coupled with an acute sense of hearing. Wesley Wales Anderson (born May 1, 1969) is an American director, writer, and producer of features, short films and commercials. ... The Royal Tenenbaums is the 2001 dramatic comedy about three genius siblings who experience great success in youth, and even greater disappointment and failure after their eccentric father leaves them in their adolescent years. ...

References

^ Williams Syndrome Information Page. National Institute of Neurological Disorders and Stroke (February 14, 2007). Retrieved on 2007-09-13.
^ Dobbs, David. "The Gregarious Brain.", New York Times, July 8, 2007. Retrieved on 2007-09-25. "If a person suffers the small genetic accident that creates Williams syndrome, he’ll live with not only some fairly conventional cognitive deficits, like trouble with space and numbers, but also a strange set of traits that researchers call the Williams social phenotype or, less formally, the “Williams personality”: a love of company and conversation combined, often awkwardly, with a poor understanding of social dynamics and a lack of social inhibition."
^ Rhitu Chatterjee. "Rare Disorder Offers Fresh Insight into Language Rhitu Chatterjee", National Public Radio, 10 Jul 2006.
^ Fetal Alcohol Syndrome: Guidelines for Referral and Diagnosis. CDC (2004).
^ Van Strien JW, Lagers-Van Haselen GC, Van Hagen JM, De Coo IF, Frens MA, Van Der Geest JN (2005). "Increased prevalences of left-handedness and left-eye sighting dominance in individuals with Williams-Beuren syndrome". J Clin Exp Neuropsychol 27 (8): 967–76. doi:10.1080/13803390490919119. PMID 16207621.
^ Sacks O (May 1995). "Musical ability". Science 268 (5211): 621–2. PMID 7732360.
^ Bihrle AM, Bellugi U, Delis D, Marks S (1989). "Seeing either the forest or the trees: dissociation in visuospatial processing". Brain Cogn 11 (1): 37–49. PMID 2528973.
Cited by
- Robert Finn. "Different Minds" (reprint), Discover magazine, June 1991.
- Agnes Luckacks. Language Abilities in Williams Syndrome (DOC). - dissertation
- Dagmara Annaz. The Development of Visuo-spatial Processing in children with Autism, Down Syndrome, and Williams Syndrome (PDF). - thesis

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Contents

Symptoms

Relativity and perception

Cause

In popular culture

References

External links