Definitions for williams syndrome
williams syn·drome

Princeton's WordNetRate this definition:0.0 / 0 votes

1. Williams syndromenoun

   a rare congenital disorder associated with deletion of genetic material in chromosome 7; characterized by mental deficiency and some growth deficiency and elfin faces but an overly social personality and a remarkable gift for vocabulary

WikipediaRate this definition:0.0 / 0 votes

1. Williams syndrome

   Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. Mild to moderate intellectual disability is observed in people with WS, with particular challenges with visual spatial tasks such as drawing. Verbal skills are relatively unaffected. Many people with WS have an outgoing personality, an openness to engaging with other people, and a happy disposition. Medical issues with teeth, heart problems (especially supravalvular aortic stenosis), and periods of high blood calcium are common.Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s. Typically, this occurs as a random event during the formation of the egg or sperm from which a person develops. In a small number of cases, it is inherited from an affected parent in an autosomal dominant manner. The different characteristic features have been linked to the loss of specific genes. The diagnosis is typically suspected based on symptoms and confirmed by genetic testing.Interventions to support people with WS includes special education programs and various types of therapy. Surgery may be done to correct heart problems. Dietary changes or medications may be required for high blood calcium. The syndrome was first described in 1961 by New Zealander John C. P. Williams. Williams syndrome affects between one in 20,000 and one in 7,500 people at birth. Life expectancy is less than that of the general population, mostly due to the increased rates of heart disease.

ChatGPTRate this definition:0.0 / 0 votes

1. williams syndrome

   Williams syndrome is a rare, genetic disorder characterized by medical problems such as cardiovascular disease, developmental delays, learning disabilities, and distinctive facial features. It’s caused by the deletion of genetic material from chromosome 7. The condition usually results in a friendly personality and strong verbal abilities but individuals may struggle with tasks such as spatial reasoning and problem-solving. It's typically detected at birth or during early childhood.

WikidataRate this definition:0.0 / 0 votes

1. Williams syndrome

   Williams syndrome is a rare neurodevelopmental disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge, an unusually cheerful demeanor and ease with strangers; developmental delay coupled with strong language skills; and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia. It is caused by a deletion of about 26 genes from the long arm of chromosome 7. The syndrome was first identified in 1961 by New Zealander Dr. J. C. P. Williams and has an estimated prevalence of 1 in 7,500 to 1 in 20,000 births.

U.S. National Library of MedicineRate this definition:0.0 / 0 votes

1. Williams 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.

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1. • Syndrome

How to pronounce williams syndrome?

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Numerology

1. Chaldean Numerology

   The numerical value of williams syndrome in Chaldean Numerology is: 8

2. Pythagorean Numerology

   The numerical value of williams syndrome in Pythagorean Numerology is: 4

References

1. ^ Princeton's WordNet
   http://wordnetweb.princeton.edu/perl/webwn?s=williams syndrome
2. ^ Wikipedia
   https://en.wikipedia.org/wiki/Williams_Syndrome
3. ^ ChatGPT
   https://chat.openai.com
4. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=williams syndrome