Read more about symptoms, causes, diagnosis, tests, types, drugs, treatments, prevention, and more information. Williams beuren syndrome an overview sciencedirect topics. We are determined to keep this website freely accessible. However, only 12 patients with a duplication of the wbcr have been reported to date, with variable developmental, psychomotor and language delay, in the absence of marked dysmorphic features. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features. Pdf exploring williamsbeuren syndrome using my grid. Typical symptoms comprise supravalvular aortic stenosis, mental retardation, overfriendliness and visuospatial impairment. Williamsbeuren syndrome hereditary ocular diseases. Structural variants in genes associated with human. Williams syndrome is a developmental disorder that affects many parts of the body. The scientific process also necessitates an awareness of the experience base, both of personal data as well as the wider context of work. Williams syndrome ws is a genetic disorder that affects many parts of the body.
Williamsbeuren syndrome wbs is a genetic condition characterized by low iq, cardiovascular malformations, dysmorphic facial features, and a striking pattern of behaviors, weaknesses, and strengths, such as musical and verbal abilities, extraordinary. Williamsbeuren syndrome wbs is a genetic disease caused by a microdeletion in the 7q11. The williamsbeuren critical region wbcr, located in 7q11. Mutation al mechanisms of williamsbeuren syndrome deletions. To report the clinical findings of 55 brazilian patients confirmed.
Williamsbeuren syndrome how is williamsbeuren syndrome. Williamsbeuren syndrome wbs is a multisystem disorder with an incidence of 1 in 20,000 births and is caused by a microdeletion on chromosome 7, resulting in the loss of 2628 genes. A duplicated gene in the breakpoint regions of the 7q11. It is characterized by congenital heart disease, mainly supravalvular aortic stenosis, mental retardation, mild short stature, facial dysmorphisms, and variable abnormalities in different systems. Williamsbeuren syndrome synonyms, williamsbeuren syndrome pronunciation, williamsbeuren syndrome translation, english dictionary definition of williamsbeuren syndrome.
For a discussion of the genes deleted in this syndrome and possible genotypephenotype correlations, see below. Williamsbeuren syndrome symptoms, causes, diagnosis. This is a deletion syndrome but included in this database because the major features are due to the loss of a single gene. The williamsbeuren syndrome is a genomic disorder prevalence. Williamsbeuren region duplication syndrome conditions. Most cases are sporadic and until very recently the. In silico experiments necessitate the virtual organization of people, data, tools and machines.
We present a case of williams syndrome that presented to us with heart murmur and cognitive problem. It is characterized by congenital heart defects chd, skeletal and renal anomalies, cognitive disorder, social personality disorder and dysmorphic facies. Wbs individuals have mild mental retardation, however, this camouflages an uneven cognitive profile. Williamsbeuren syndrome, a multisystem disorder caused by the deletion of a chromosome region of 1. A williams syndrome, also known as williamsbeuren syndrome. Williamsbeuren syndrome is a rare familial multisystem disorder occurring in 1 per 20,000 live births. Williamsbeuren region duplication syndrome synonyms wbs duplication syndrome modes of inheritance. Williamsbeuren syndrome definition of williamsbeuren. Facial features frequently include a broad forehead, short nose and full cheeks, an appearance that has been described as elfin. Williamsbeuren syndrome johns hopkins university press.
To ensure longterm funding for the omim project, we have diversified our revenue stream. Mild to moderate intellectual disability with particular problems with visual spatial tasks such as drawing and fewer problems with. Williamsbeuren syndrome wbs, first described in 1961 and 1962, is a rare genetic developmental disorder with a reported prevalence of between 17,500 and 125,000 live births. It is characterized by congenital heart defects chd, skeletal and renal anomalies. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel cardiovascular problems. Mim 194050 is a rare developmental disorder 120 000150 000 live births which usually occurs sporadically and has striking physical and behavioural features.
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