Williams Syndrome (Williams-Beuren Syndrome)

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.

Also Known As:

Networked: 341 relevant articles (5 outcomes, 15 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Hypercalcemia (Milk Alkali Syndrome)
2.	Vomiting
3.	Lethargy
4.	Muscle Hypotonia (Hypotonia)
5.	Constipation

Experts

1.	Bayarsaihan, Dashzeveg: 7 articles (05/2013 - 01/2004)
2.	Pober, Barbara R: 6 articles (11/2014 - 05/2008)
3.	Fujiki, Ryoji: 6 articles (02/2014 - 06/2003)
4.	Kitagawa, Hirochika: 6 articles (02/2014 - 06/2003)
5.	Kato, Shigeaki: 6 articles (02/2014 - 06/2003)
6.	Makeyev, Aleksandr V: 6 articles (05/2013 - 07/2004)
7.	Morris, Colleen A: 6 articles (05/2010 - 07/2003)
8.	Karmiloff-Smith, Annette: 5 articles (05/2013 - 08/2007)
9.	Mervis, Carolyn B: 5 articles (05/2010 - 07/2003)
10.	Knutsen, Russell H: 4 articles (09/2015 - 12/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Williams Syndrome:

1.	Vitamin DFDA LinkGeneric 06/27/2003 - "Furthermore, overexpression of WSTF could restore the impaired recruitment of VDR to vitamin D regulated promoters in fibroblasts from Williams syndrome patients. " 06/01/1988 - "We speculate on the fact that the disorder resulted as a consequence of abnormal vitamin D metabolism in the fetoplacental unit, and that it might be related to the Williams syndrome." 10/01/1999 - "Idiopathic infantile hypercalcemia (IIH) is a rare cause of hypercalcemia in the 1st year of life and was initially considered part of a spectrum encompassing vitamin D intoxication, Williams syndrome, and idiopathic hypercalcemia. " 11/01/2007 - "When faced with an infant presenting with digestive disorders such as vomiting and constipation, associated with neurological troubles (lethargy, hypotonia) and hypercalcemia, vitamin D intoxication should be considered after tumoral, hormonal or malformative (Williams-Beuren syndrome) causes have been eliminated. " 07/01/2014 - "Importance of dietary calcium and vitamin D in the treatment of hypercalcaemia in Williams-Beuren syndrome."
2.	Growth Hormone (Somatotropin)IBA 06/01/1999 - "We report a boy with confirmed Williams-Beuren syndrome, who was found to have classical growth hormone deficiency and responded well to growth hormone therapy. " 02/01/2005 - "Growth hormone deficiency in a child with Williams-Beuren syndrome. " 06/01/1999 - "Growth hormone treatment in a child with Williams-Beuren syndrome: a case report." 04/01/1983 - "Williams syndrome and growth hormone deficiency." 01/01/2008 - "Successful treatment of a morbidly obese and growth-retarded adolescent with Williams-Beuren Syndrome by combining the medication of growth hormone and sibutramine."
3.	pamidronate (APD)FDA LinkGeneric 07/01/2004 - "To report the efficacy of Pamidronate to treat hypercalcaemia in a patient with Williams-Beuren syndrome (WBS). " 07/01/2004 - "Long-term control of hypercalcaemia in an infant with williams-Beuren syndrome after a single infusion of biphosphonate (Pamidronate)." 02/01/2015 - "Pamidronate for long-term control of hypercalcemia associated with Williams syndrome." 01/01/2011 - "Severe hypercalcemia associated with Williams syndrome successfully treated with pamidronate infusion therapy." 10/01/2004 - "Severe infantile hypercalcemia associated with Williams syndrome successfully treated with intravenously administered pamidronate."
4.	NADPH Oxidase (NAD(P)H oxidase)IBA 02/01/2012 - "Reduction of NADPH-oxidase activity ameliorates the cardiovascular phenotype in a mouse model of Williams-Beuren Syndrome."
5.	salmon calcitonin (Calcimar)FDA LinkGeneric 01/01/2014 - "Efficacy of miacalcic in treating a hypercalcemia crisis caused by Williams-Beuren syndrome."
6.	ElastinIBA 11/01/2007 - "This study is concerned with ways in which children with Williams syndrome (WS), a rare neurodevelopmental disorder arising from a hemizygous deletion in chromosome band 7q11.23 including the gene for elastin (ELN) and approximately 20 surrounding genes, are affected by social mores of vastly differing cultures: the United States and Japan. " 06/19/1999 - "We report clinical evaluation, FISH using Elastin Williams/D7S427 probe and molecular study with markers: D7S672, D7S653, D7S489B, D7S2476, D7S1870 and D7S489A, in 80 patients referred to test for Williams-Beuren syndrome. " 01/01/1998 - "In our study, hemizygosity at the elastin locus was investigated using FISH analyses in 16 sporadic cases with a firm clinical diagnosis of Williams syndrome, and the characteristic features were evaluated. " 01/01/2016 - "Williams syndrome (WS) is a genetic disorder due to deficiency of elastin gene expression. " 11/01/2015 - "Elastin deficiency in Williams syndrome may explain postoperative major adverse cardiac events."
7.	Oculocerebral hypopigmentation syndrome type PreusIBA 04/01/2012 - "Research on Williams syndrome is taken as a model, used to demonstrate the static versus dynamic perspectives, covering new work on social cognition, spatial cognition, and sleep-related consolidation of memory in neurodevelopmental disorders, as well as hypothesis-driven cross-syndrome comparisons. " 10/01/2001 - "The cross-syndrome/cross-domain studies demonstrate that the pattern of performance of infants with Down syndrome and Williams syndrome on two tasks assessing language and number cannot be derived from the pattern of proficiencies and impairments in the adult phenotypic outcome. " 05/01/2013 - "Cross syndrome comparison of sleep problems in children with Down syndrome and Williams syndrome." 02/01/2012 - "Anxiety and repetitive behaviours in autism spectrum disorders and williams syndrome: a cross-syndrome comparison." 04/01/2009 - "A cross-syndrome study of the development of holistic face recognition in children with autism, Down syndrome, and Williams syndrome."
8.	Transcription Factors (Transcription Factor)IBA 04/16/2010 - "In this study, by the alpha-helical region substitution between the EL5 RING finger and the Williams-Beuren syndrome transcription factor (WSTF) PHD finger, the artificial E3 (WSTF PHD_RING finger) was newly created. " 03/01/2015 - "The phenotype of Src (thl/thl) mice showed significant overlap with Williams-Beuren syndrome (WBS), a disorder caused by the deletion of several genes, including General Transcription Factor 2-I (GTF2I). " 01/01/2015 - "Copy-number variation (CNV) in the general transcription factor gene, GTF2I, located in the 7q11.23 chromosomal region that is hemideleted in Williams syndrome and duplicated in the 7q11.23 duplication syndrome (Dup7), is associated with gene-dose-dependent anxiety in mouse models and in both Williams syndrome and Dup7. " 07/01/2014 - "In the light of this new development we discuss the role of one of the deleted genes in WBS, Williams syndrome transcription factor (WSTF), in the etiology of hypercalcaemia in WBS." 02/11/2014 - "Retraction for Yoshimura et al., Distinct function of 2 chromatin remodeling complexes that share a common subunit, Williams syndrome transcription factor (WSTF)."
9.	DNA (Deoxyribonucleic Acid)IBA 11/01/2011 - "Using a 'taster menu' approach and prioritizing newer findings on cognitive and behavioral traits, examples from the following genetic disciplines will be discussed: (a) developmental quantitative genetics (such as longitudinal twin studies), (b) neurodevelopmental genetic syndromes with known genetic causes (such as Williams syndrome), (c) developmental candidate gene studies (such as those that link infant and adult populations), (d) developmental genome-wide association studies (GWAS), and (e) DNA resequencing. " 01/01/2014 - "Focusing on SD clusters implicated in the aetiology of the Williams-Beuren syndrome locus we demonstrate by cross-species comparison that these SDs have inserted at the borders of a topological domain and that they flank regions with distinct DNA conformation. " 05/15/2010 - "Williams syndrome (WS) is a multisystem disorder caused by deletion of about 1.55 Mb of DNA (including 26 genes) on chromosome 7q11.23, a region predisposed to recombination due to its genomic structure. " 02/12/2010 - "Negative autoregulation of GTF2IRD1 in Williams-Beuren syndrome via a novel DNA binding mechanism." 01/01/1997 - "Investigation of deletions at 7q11.23 in 44 patients referred for Williams-Beuren syndrome, using FISH and four DNA polymorphisms."
10.	Shprintzen VCF syndromeIBA 08/01/2015 - "Mother-child interactions in 22q11.2 Deletion syndrome (22q11.2DS) and Williams syndrome (WS) were coded for maternal sensitivity/intrusiveness, child's expression of affect, levels of engagement, and dyadic reciprocity. " 08/01/2015 - "Mother-Child Interaction as a Window to a Unique Social Phenotype in 22q11.2 Deletion Syndrome and in Williams Syndrome." 05/01/2014 - "22q11.2 deletion syndrome (22q11.2DS) and Williams syndrome (WS) are common neurogenetic microdeletion syndromes. " 01/01/2014 - "Shyness discriminates between children with 22q11.2 deletion syndrome and Williams syndrome and predicts emergence of psychosis in 22q11.2 deletion syndrome." 03/01/2009 - "A comparative study of cognition and brain anatomy between two neurodevelopmental disorders: 22q11.2 deletion syndrome and Williams syndrome."

Therapies and Procedures

1.	Prosthodontics 06/01/2003 - "The results of this study indicate that although there is variation in dental development in individuals with Williams syndrome, agenesis of permanent teeth in combination with aberrations in tooth size and morphology may affect dental esthetics and complicate orthodontic and prosthodontic treatment."
2.	Dental Esthetics (Cosmetic Dentistry) 06/01/2003 - "The results of this study indicate that although there is variation in dental development in individuals with Williams syndrome, agenesis of permanent teeth in combination with aberrations in tooth size and morphology may affect dental esthetics and complicate orthodontic and prosthodontic treatment."
3.	Anesthesia 09/01/2010 - "Prevention of cardiac arrest due to anesthesia in Williams syndrome." 01/01/2010 - "Sudden cardiac death under anesthesia in pediatric patient with Williams syndrome: a case report and review of literature." 08/01/2005 - "Cardiac arrest under anesthesia in a pediatric patient with Williams syndrome: a case report." 12/01/2002 - "Coronary artery disease and anesthesia-related death in children with Williams syndrome." 12/01/2015 - "Since the first description in 1961, several case reports have documented an increased incidence of anesthesia-related cardiac arrest in patients with Williams-Beuren syndrome, commonly known as Williams syndrome (WS). "
4.	Stents 05/01/2009 - "We report a case of distal migration of a stent from the brachiocephalic artery to the distal right common carotid artery 7 months after implantation in a 5-year-old child with Williams syndrome. " 05/01/2009 - "Carotid artery stent migration in a child with Williams syndrome." 10/01/2008 - "In a patient with Williams-Beuren syndrome, massive neointimal proliferation made stent redilation impossible. " 07/01/2007 - "Pulmonary arterial stent implantation in an adult with Williams syndrome." 05/01/2002 - "Restenosis and pseudoaneurysm formation after stent placement for aortic coarctation in Williams syndrome."
5.	Ligation 08/01/2009 - "To establish a method of multiplex ligation-dependent probe amplification (MLPA) for clinical screening of Williams syndrome (WS) and for routine use in WS diagnosis. " 08/01/2009 - "[Detection of microdeletion in Williams syndrome by multiplex ligation-dependent probe amplification]." 01/01/2007 - "Comparing two diagnostic laboratory tests for Williams syndrome: fluorescent in situ hybridization versus multiplex ligation-dependent probe amplification." 01/30/2014 - "We performed multiplex ligation-dependent probe amplification of the 7q11.23 region of a 17 years old dizygotic opposite-sex twin pair discordant for Williams syndrome. " 02/01/2009 - "Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work. "