Williams Syndrome

"Williams Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.

Descriptor ID	D018980
MeSH Number(s)	C10.597.606.643.970 C14.280.484.150.535.960 C16.131.260.970 C16.320.180.970
Concept/Terms	Williams Syndrome Williams Syndrome Syndrome, Williams Contiguous Gene Syndrome, Williams Supravalvar Aortic Stenosis Syndrome Williams-Beuren Syndrome Syndrome, Williams-Beuren Williams Beuren Syndrome Beuren Syndrome Syndrome, Beuren Hypercalcemia-Supravalvar Aortic Stenosis Aortic Stenoses, Hypercalcemia-Supravalvar Aortic Stenosis, Hypercalcemia-Supravalvar Hypercalcemia Supravalvar Aortic Stenosis Hypercalcemia-Supravalvar Aortic Stenoses Stenoses, Hypercalcemia-Supravalvar Aortic Stenosis, Hypercalcemia-Supravalvar Aortic Chromosome 7q11.23 Deletion Syndrome Williams Contiguous Gene Syndrome

Below are MeSH descriptors whose meaning is more general than "Williams Syndrome".

Diseases [C]
Nervous System Diseases [C10]
Neurologic Manifestations [C10.597]
Neurobehavioral Manifestations [C10.597.606]
Intellectual Disability [C10.597.606.643]
Williams Syndrome [C10.597.606.643.970]
Cardiovascular Diseases [C14]
Heart Diseases [C14.280]
Heart Valve Diseases [C14.280.484]
Aortic Valve Stenosis [C14.280.484.150]
Aortic Stenosis, Supravalvular [C14.280.484.150.535]
Williams Syndrome [C14.280.484.150.535.960]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Chromosome Disorders [C16.131.260]
Williams Syndrome [C16.131.260.970]
Genetic Diseases, Inborn [C16.320]
Chromosome Disorders [C16.320.180]
Williams Syndrome [C16.320.180.970]

Below are MeSH descriptors whose meaning is more specific than "Williams Syndrome".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Williams Syndrome" by people in this website by year, and whether "Williams Syndrome" was a major or minor topic of these publications.

Bar chart showing 11 publications over 7 distinct years, with a maximum of 4 publications in 2006

To see the data from this visualization as text, click here.

Year	Major Topic	Total
1997	1	1
2004	1	1
2005	2	2
2006	4	4
2007	1	1
2013	1	1
2018	1	1

Below are the most recent publications written about "Williams Syndrome" by people in Profiles.

Burt JR, Beavers K, Kendall M, Valente M, Garcia JA. A Novel Imaging Finding in Williams Syndrome: The Coral Sign. Pediatr Cardiol. 2018 Jun; 39(5):1063-1065.

View in: PubMed
Gray JC, Krazinski AW, Schoepf UJ, Meinel FG, Pietris NP, Suranyi P, Hlavacek AM. Cardiovascular manifestations of Williams syndrome: imaging findings. J Cardiovasc Comput Tomogr. 2013 Nov-Dec; 7(6):400-7.

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Mobbs D, Eckert MA, Menon V, Mills D, Korenberg J, Galaburda AM, Rose FE, Bellugi U, Reiss AL. Reduced parietal and visual cortical activation during global processing in Williams syndrome. Dev Med Child Neurol. 2007 Jun; 49(6):433-8.

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Mobbs D, Eckert MA, Mills D, Korenberg J, Bellugi U, Galaburda AM, Reiss AL. Frontostriatal dysfunction during response inhibition in Williams syndrome. Biol Psychiatry. 2007 Aug 01; 62(3):256-61.

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Eckert MA, Galaburda AM, Mills DL, Bellugi U, Korenberg JR, Reiss AL. The neurobiology of Williams syndrome: cascading influences of visual system impairment? Cell Mol Life Sci. 2006 Aug; 63(16):1867-75.

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Eckert MA, Galaburda AM, Karchemskiy A, Liang A, Thompson P, Dutton RA, Lee AD, Bellugi U, Korenberg JR, Mills D, Rose FE, Reiss AL. Anomalous sylvian fissure morphology in Williams syndrome. Neuroimage. 2006 Oct 15; 33(1):39-45.

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Eckert MA, Tenforde A, Galaburda AM, Bellugi U, Korenberg JR, Mills D, Reiss AL. To modulate or not to modulate: differing results in uniquely shaped Williams syndrome brains. Neuroimage. 2006 Sep; 32(3):1001-7.

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Thompson PM, Lee AD, Dutton RA, Geaga JA, Hayashi KM, Eckert MA, Bellugi U, Galaburda AM, Korenberg JR, Mills DL, Toga AW, Reiss AL. Abnormal cortical complexity and thickness profiles mapped in Williams syndrome. J Neurosci. 2005 Apr 20; 25(16):4146-58.

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Eckert MA, Hu D, Eliez S, Bellugi U, Galaburda A, Korenberg J, Mills D, Reiss AL. Evidence for superior parietal impairment in Williams syndrome. Neurology. 2005 Jan 11; 64(1):152-3.

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Reiss AL, Eckert MA, Rose FE, Karchemskiy A, Kesler S, Chang M, Reynolds MF, Kwon H, Galaburda A. An experiment of nature: brain anatomy parallels cognition and behavior in Williams syndrome. J Neurosci. 2004 May 26; 24(21):5009-15.

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