"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.
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
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| 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
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Below are MeSH descriptors whose meaning is more general than "Williams Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Williams Syndrome".
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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1997 | 1 | 0 | 1 |
| 2004 | 1 | 0 | 1 |
| 2005 | 2 | 0 | 2 |
| 2006 | 4 | 0 | 4 |
| 2007 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
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Below are the most recent publications written about "Williams Syndrome" by people in Profiles.
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A Novel Imaging Finding in Williams Syndrome: The Coral Sign. Pediatr Cardiol. 2018 Jun; 39(5):1063-1065.
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Cardiovascular manifestations of Williams syndrome: imaging findings. J Cardiovasc Comput Tomogr. 2013 Nov-Dec; 7(6):400-7.
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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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Frontostriatal dysfunction during response inhibition in Williams syndrome. Biol Psychiatry. 2007 Aug 01; 62(3):256-61.
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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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Anomalous sylvian fissure morphology in Williams syndrome. Neuroimage. 2006 Oct 15; 33(1):39-45.
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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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Abnormal cortical complexity and thickness profiles mapped in Williams syndrome. J Neurosci. 2005 Apr 20; 25(16):4146-58.
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Evidence for superior parietal impairment in Williams syndrome. Neurology. 2005 Jan 11; 64(1):152-3.
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An experiment of nature: brain anatomy parallels cognition and behavior in Williams syndrome. J Neurosci. 2004 May 26; 24(21):5009-15.