Williams Beuren Syndrome

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Keyword Suggestion

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Related websites

Williams syndrome - Wikipedia

Williams syndrome was first described by J. C. P. Williams and his colleagues, who wrote in 1961 of four patients with supravalvular aortic stenosis, mental disability, and facial features including a broad forehead, large chin, low-set, "drooping" cheeks, widely spaced eyes, and wide-set mouth. A year after this report, German physician A. J. Beuren described three new patients with the same presentation. This led to the syndrome's full original name, Williams-Beuren syndrome, w…

En.wikipedia.org


Williams Syndrome - GeneReviews® - NCBI Bookshelf

Apr 9, 1999 · Williams syndrome (WS) is characterized by developmental delay, intellectual disability (usually mild), a specific cognitive profile, unique personality characteristics, cardiovascular disease (supravalvar aortic stenosis, peripheral …

Ncbi.nlm.nih.gov


Williams Syndrome - StatPearls - NCBI Bookshelf

Jun 26, 2023 · The genetic cause of Williams syndrome was uncovered in 1993. The disorder is due to deletion at chromosome band 7q11.23 that involves the elastin gene (ELN). The gene is in the Williams-Beuren Syndrome Critical …

Ncbi.nlm.nih.gov


Williams Syndrome: Symptoms, Diagnosis, and …

Jul 9, 2017 · Williams syndrome, also called Williams-Beuren syndrome, is a rare genetic disorder. It causes many developmental problems. These can include heart and blood vessel issues (including narrowed blood vessels), …

Healthline.com


Williams Syndrome - Symptoms, Causes, Treatment | NORD

May 1, 2008 · Learn about Williams Syndrome, including symptoms, causes, and treatments.

Rarediseases.org


Williams syndrome - MedlinePlus

Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial …

Medlineplus.gov


Williams Syndrome: Causes, Symptoms, and Diagnosis - WebMD

Sep 22, 2024 · Williams syndrome (WS), also called Williams-Beuren syndrome (WBS), is a rare genetic disorder that causes a variety of symptoms throughout the body. If your child's …

Webmd.com


Williams Syndrome - National Institute of Neurological Disorders …

Jul 19, 2024 · Williams syndrome (WS) is a rare genetic disorder. People with WS may have mild to moderate delays in their cognitive development (ability to think and reason) or learning …

Ninds.nih.gov


Williams syndrome - UpToDate

Sep 30, 2020 · Williams syndrome (WS, OMIM #194050 [ 1 ]), also known as Williams-Beuren syndrome, is a multisystem, contiguous gene deletion syndrome caused by hemizygous …

Uptodate.com


Williams Syndrome (Williams-Beuren Syndrome) - American …

Oct 31, 2016 · The full-blown form of the syndrome includes supravalvular aortic stenosis, multiple peripheral pulmonary arterial stenoses, elfin face, mental and statural deficiency, …

Aao.org


Williams syndrome: Features, causes, and treatment - Medical …

Mar 23, 2017 · Williams syndrome is a rare genetic condition which can give a person special facial features, a sociable personality, and some learning challenges. Treatment includes …

Medicalnewstoday.com


Williams Syndrome Association

Williams syndrome (WS) is a genetic condition that is present at birth and can affect anyone. WS occurs equally in males and females and in all cultures worldwide. Learn more

Williams-syndrome.org


Williams syndrome | About the Disease | GARD - Genetic and …

Williams syndrome is a genetic condition that affects many parts of the body. Signs and symptoms include mild to moderate intellectual disability; unique personality traits; distinctive …

Rarediseases.info.nih.gov


Williams Syndrome Pictures, Signs, Symptoms, Causes & Life Span

Williams syndrome (also termed Williams-Beuren syndrome) is a rare genetic disorder (in chromosome 7) that results in prenatal and postnatal growth disorder, short stature, variable …

Emedicinehealth.com


WILLIAMS SYNDROME: CAUSES, SYMPTOMS, TREATMENT, …

Oct 22, 2024 · Williams Syndrome (WS), or Williams-Beuren Syndrome, is a rare sporadic genetic disorder that appears in approximately 1 of every 10,000-20,000 people worldwide [1]. …

Myacare.com


Entry - #194050 - WILLIAMS-BEUREN SYNDROME; WBS - OMIM

Williams-Beuren syndrome (WBS) is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which contains approximately 28 genes.

Omim.org


Williams–Beuren Syndrome | New England Journal of Medicine

Jan 21, 2010 · Williams–Beuren syndrome (also known as Williams' syndrome; Online Mendelian Inheritance in Man [OMIM] number, 194050), a multisystem disorder, is caused by deletion …

Nejm.org


Williams syndrome - Nature Reviews Disease Primers

Jun 17, 2021 · Williams syndrome (WS) is a relatively rare microdeletion disorder that occurs in as many as 1:7,500 individuals. WS arises due to the mispairing of low-copy DNA repetitive …

Nature.com


Automatic Facial Recognition of Williams-Beuren Syndrome …

Williams-Beuren Syndrome (WBS) is a rare genetic syndrome, with an occurrence of ~1 in 10,000 persons (1). The syndrome consists of a characteristic facial gestalt, cardiovascular …

Pmc.ncbi.nlm.nih.gov


IMAGES & VIDEOS: Stellate iris pattern and retinal arteriolar

Oct 13, 2024 · WBS is a multisystem disorder characterized by dysmorphic features, supravalvular aortic stenosis, intellectual deficiency, hypersocial behavior, and hypercalcemia. …

Djo.harvard.edu


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