Williams syndrome
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Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterised by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.
Descrizione
Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterised by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems.
People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder.
Young children with Williams syndrome have distinctive facial features including a broad forehead, puffiness around the eyes, a flat bridge of the nose, full cheeks, and a small chin. Many affected people have dental problems such as teeth that are small, widely spaced, crooked, or missing. Older children and adults typically have a longer face with a wide mouth and full lips.
A form of cardiovascular disease called supravalvular aortic stenosis (SVAS) occurs frequently in people with Williams syndrome. Supravalvular aortic stenosis is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Narrowing of other vessels, including the artery from the heart to the polmoni (pulmonary stenosis) and the arteries that supply blood to the heart (coronary artery stenosis) can also occur. Other problems with the heart and blood vessels, including high blood pressure (hypertension) and stiff blood vessels, have also been reported in people with Williams syndrome. Individuals with Williams syndrome have an increased risk of complications with the use of anesthesia.
Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin. Affected people may also have increased calcium levels in the blood (hypercalcemia) in infancy, developmental delays, problems with coordination, and short stature. Medical problems involving vision or hearing, including sensitivity to sound (hyperacusis), are frequently associated with Williams syndrome. In addition, problems with the digestive tract and the urinary system are also possible. Obesity or diabetes can develop in adulthood.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
Beuren syndrome
Elfin facies syndrome
Elfin facies with hypercalcemia
Hypercalcemia-supravalvar aortic stenosis
WBS
Williams-Beuren syndrome
WS
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Ulteriori letture e riferimenti
- Williams syndrome; MedlinePlus, National Library of Medicine.
- Bhattacharjee Y. Friendly faces and unusual minds. Science. 2005 Nov 4;310(5749):802-4. doi: 10.1126/science.310.5749.802. No abstract available.
- Carrasco X, Castillo S, Aravena T, Rothhammer P, Aboitiz F. Williams syndrome: pediatric, neurologic, and cognitive development. Pediatr Neurol. 2005 Mar;32(3):166-72. doi: 10.1016/j.pediatrneurol.2004.09.013.
- Del Campo M, Antonell A, Magano LF, Munoz FJ, Flores R, Bayes M, Perez Jurado LA. Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension. Am J Hum Genet. 2006 Apr;78(4):533-42. doi: 10.1086/501073. Epub 2006 Jan 31.
- 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. doi: 10.1007/s00018-005-5553-x.
- Hobart HH, Morris CA, Mervis CB, Pani AM, Kistler DJ, Rios CM, Kimberley KW, Gregg RG, Bray-Ward P. Inversion of the Williams syndrome region is a common polymorphism found more frequently in parents of children with Williams syndrome. Am J Med Genet C Semin Med Genet. 2010 May 15;154C(2):220-8. doi: 10.1002/ajmg.c.30258.
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- Kozel BA, Bayliss SJ, Berk DR, Waxler JL, Knutsen RH, Danback JR, Pober BR. Skin findings in Williams syndrome. Am J Med Genet A. 2014 Sep;164A(9):2217-25. doi: 10.1002/ajmg.a.36628. Epub 2014 Jun 11.
- Kozel BA, Danback JR, Waxler JL, Knutsen RH, de las Fuentes L, Reusz GS, Kis E, Bhatt AB, Pober BR. Williams syndrome predisposes to vascular stiffness modified by antihypertensive use and copy number changes in NCF1. Hypertension. 2014 Jan;63(1):74-9. doi: 10.1161/HYPERTENSIONAHA.113.02087. Epub 2013 Oct 14.
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- Morris CA, Braddock SR; COUNCIL ON GENETICS. Health Care Supervision for Children With Williams Syndrome. Pediatrics. 2020 Feb;145(2):e20193761. doi: 10.1542/peds.2019-3761. Epub 2020 Jan 21.
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- Sindhar S, Lugo M, Levin MD, Danback JR, Brink BD, Yu E, Dietzen DJ, Clark AL, Purgert CA, Waxler JL, Elder RW, Pober BR, Kozel BA. Hypercalcemia in Patients with Williams-Beuren Syndrome. J Pediatr. 2016 Nov;178:254-260.e4. doi: 10.1016/j.jpeds.2016.08.027. Epub 2016 Aug 26.
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