William's Syndrome: Difference between revisions
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== Definition/Description == | == Definition/Description == | ||
William’s Syndrome, also known as Williams-Beuren Syndrome was first recognized as a unique disorder in 1961. | William’s Syndrome, also known as Williams-Beuren Syndrome was first recognized as a unique disorder in 1961. J.C.P. Williams observed in four patients an association between supravalvular stenosis and the common physical and mental characteristics of this patient population and stated that it “may constitute a previously unrecognized syndrome”. Later, A.J. Beuren described eleven new patients with the characteristics described by Williams and the disorder became known as Williams-Beuren Syndrome. Diagnosis of the syndrome can be made at birth based on physical characteristics, but a true medical diagnosis is confirmed following a diagnostic test called fluorescence in situ hybridization (FISH).1 The test reveals a recurring micro-deletion, with a size of 1,551,83 Mb, on chromosome band 7q11.23, which contains 24-28 genes.2-4 The deleted part of the chromosome band includes the elastin gene, which leads to serious cardiovascular complications.5<br> | ||
== Prevalence == | == Prevalence == | ||
Revision as of 02:32, 5 April 2011
Original Editors - Julie Frederick from Bellarmine University's Pathophysiology of Complex Patient Problems project.
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Definition/Description[edit | edit source]
William’s Syndrome, also known as Williams-Beuren Syndrome was first recognized as a unique disorder in 1961. J.C.P. Williams observed in four patients an association between supravalvular stenosis and the common physical and mental characteristics of this patient population and stated that it “may constitute a previously unrecognized syndrome”. Later, A.J. Beuren described eleven new patients with the characteristics described by Williams and the disorder became known as Williams-Beuren Syndrome. Diagnosis of the syndrome can be made at birth based on physical characteristics, but a true medical diagnosis is confirmed following a diagnostic test called fluorescence in situ hybridization (FISH).1 The test reveals a recurring micro-deletion, with a size of 1,551,83 Mb, on chromosome band 7q11.23, which contains 24-28 genes.2-4 The deleted part of the chromosome band includes the elastin gene, which leads to serious cardiovascular complications.5
Prevalence[edit | edit source]
Stated as being anywhere from 1/7,500 to 1/50,000.1,2,6,7 William’s Syndrome occurs sporadically and spontaneously and is found equally in all ethnicities, races, socioeconomic backgrounds and genders.1,5,7
Characteristics/Clinical Presentation[edit | edit source]
• Craniofacial dysmorphic features1-5,7
o Full lips4,7, short nasal bridge4, large forehead4, long philthrum7, epicanthal folds7, hypertelorism7, mandibular hypoplasia7
• Mild to moderate mental retardation1-5,7
o Average IQ = 55-60 but can range from 40-901
• Mild to moderate learning disabilies2
• Associated systemic disorders (especially cardiovascular)1-7
• Mild growth retardation1,3, short stature5,7
• Commonly overweight as adults1
• Deficient visuo-spatial abilities3-5
• Global processing deficits4
• Overfriendly personalities2,3,5
• Very sociable4
• Hyperacusis or algiacusis3
Associated Co-morbidities[edit | edit source]
According to Pober, Johnson and Urban, all of the following conditions have been associated with William’s Syndrome1:
• Cardiovascular pathologies23456
o Supravalvular aortic stenosis46, hypertension45, ventricular septal defect6, patent ductus arteriosus6, stenosis of outlying arteries (renal, cerebral, carotid, coronary, brachiocephalic, subclavian, mesenteric, lung)6, arteriovenous shunt6, interruption of the aortic arch6, vein aplasia6, aortic aneurysm6, pulmonary arterial stenosis5, left and right ventricular hypertrophy5, aortic coarctation5, mitral valve prolapse5, aortic valvular insufficiency5
• Endocrine abnormalities5
o Hypercalcemia46, abnormal glucose metabolism, thyroid hypoplasia7, hypothyroidism7
• Dental anomalies
o Small, abnormally shape teeth, absent teeth, malocclusion
• Gastrointestinal
o Dysmotility, reflux, constipation, diverticular disease
• Musculoskeletal anomalies
o Joint stiffness, scoliosis
• Sensorineural hearing loss
• Genitourinay anomalies5
o Urinary frequency, bladder diverticuli
• Neurological problems
o Abnormal tone, hyperreflexia, cerebellar dysfunction
Medications[edit | edit source]
There are no medications for William’s Syndrome itself, however, common medications for systemic complications include: thyroxine for hypothyroidism7
Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
The most common test used to diagnose William’s Syndrome is fluorescence in situ hybridization (FISH).1 Other tests to diagnose systemic complications include: electrocardiogram, ultrasonography, Tc-pertechnetate thyroid scinitgraphy, thyroid function tests,
Etiology/Causes[edit | edit source]
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Systemic Involvement[edit | edit source]
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Medical Management (current best evidence)[edit | edit source]
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Physical Therapy Management (current best evidence)[edit | edit source]
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Alternative/Holistic Management (current best evidence)[edit | edit source]
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Differential Diagnosis[edit | edit source]
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Case Reports/ Case Studies[edit | edit source]
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Resources
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Recent Related Research (from Pubmed)[edit | edit source]
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References[edit | edit source]
1. Pober B, Johnson M, Urban Z. Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome. Journal of Clinical Investigation. (2008, May); 118(5): 1606-1615.
2. John A, Mervis C. Comprehension of the Communicative Intent Behind Pointing and Gazing Gestures by Young Children with Williams Syndrome or Down Syndrome. Journal of Speech, Language & Hearing Research. (2010, Aug); 53(4): 950-960.
3. Lucena J, Pezzi S, Aso E, Valero M, Carreiro C, Campuzano V, et al. Essential role of the N-terminal region of TFII-I in viability and behavior. BMC Medical Genetics. (2010, Apr 19); 1161.
4. Collette J, Xiao-Ning C, Mills D, Galaburda A, Reiss A, Korenberg J, et al. William's syndrome: gene expression is related to parental origin and regional coordinate control. Journal of Human Genetics. (2009, Apr); 54(4): 193-198.
5. Del Pasqua A, Rinelli G, Toscano A, Iacobelli R, Digilio C, de Zorzi A, et al. New Findings concerning Cardiovascular Manifestations emerging from Long-term Follow-up of 150 patients with the Williams-Beuren-Beuren syndrome. Cardiology in the Young. (2009, Dec); 19(6): 563-567.
6. Figueroa J, Olivares Rodríguez L, Pablos Hach J, Ruíz V, Martínez H. Cardiovascular Spectrum in Williams-Beuren Syndrome. Texas Heart Institute Journal. (2008, Sep); 35(3): 279-285.
7. Stagi, Manoni, Salti, Cecchi, Chiarelli. Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Williams Syndrome. Hormone Research. (2008, Nov); 70(5): 316-318.
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