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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:
Williams-Beuren Syndrome; Syndrome, Williams; Williams Contiguous Gene Syndrome; Elfin Facies Syndromes; Syndrome, Elfin Facies; Syndrome, Williams-Beuren; Williams Beuren Syndrome; Contiguous Gene Syndrome, Williams; Elfin Facies Syndrome
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
2. Growth Hormone (Somatotropin)IBA
3. pamidronate (APD)FDA LinkGeneric
4. NADPH Oxidase (NAD(P)H oxidase)IBA
5. salmon calcitonin (Calcimar)FDA LinkGeneric
6. ElastinIBA
7. Oculocerebral hypopigmentation syndrome type PreusIBA
8. Transcription Factors (Transcription Factor)IBA
9. DNA (Deoxyribonucleic Acid)IBA
10. Shprintzen VCF syndromeIBA

Therapies and Procedures

1. Prosthodontics
2. Dental Esthetics (Cosmetic Dentistry)
3. Anesthesia
4. Stents
5. Ligation