William's Syndrome

 

Welcome to PT 635 Pathophysiology of Complex Patient Problems This is a wiki created by and for the students in the School of Physical Therapy at Bellarmine University in Louisville KY. Please do not edit unless you are involved in this project, but please come back in the near future to check out new information!!

Original Editors - Julie Frederick from Bellarmine University's Pathophysiology of Complex Patient Problems project.

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Definition/Description

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”.1 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

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

• 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

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Medications

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Diagnostic Tests/Lab Tests/Lab Values

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

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Systemic Involvement

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Medical Management (current best evidence)

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Physical Therapy Management (current best evidence)

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Alternative/Holistic Management (current best evidence)

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Differential Diagnosis

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Case Reports/ Case Studies

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Resources

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Recent Related Research (from Pubmed)

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References

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