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{{Hurler syndrome}}
{{Hurler syndrome}}
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==Overview==
==Overview==
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Developmental delay is evident by the end of the first year, and patients usually stop developing between ages 2 and 4. This is followed by progressive mental decline and loss of physical skills. [[Language]] may be limited due to [[hearing loss]] and an enlarged [[tongue]]. In time, the clear layers of the [[cornea]] become clouded and [[retina]]s may begin to degenerate. [[Carpal tunnel syndrome]] (or similar compression of [[nerve]]s elsewhere in the body) and restricted [[joint]] movement are common.
Developmental delay is evident by the end of the first year, and patients usually stop developing between ages 2 and 4. This is followed by progressive mental decline and loss of physical skills. [[Language]] may be limited due to [[hearing loss]] and an enlarged [[tongue]]. In time, the clear layers of the [[cornea]] become clouded and [[retina]]s may begin to degenerate. [[Carpal tunnel syndrome]] (or similar compression of [[nerve]]s elsewhere in the body) and restricted [[joint]] movement are common.
==Physical examination==
===Gallery===
====Head====
<gallery>
Image: Gargoylism_01.png| Hurler syndrome. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=160>
Image: Gargoylism_02.png| Hurler syndrome. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=160>
</gallery>
====Trunk====
<gallery>
Image: Gargoylism_03.png| Hurler syndrome.
<SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=160>
Image: Gargoylism_04.png| Hurler syndrome. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=160>
Image: Gargoylism_05.png| Hurler syndrome. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=160>
Image: Gargoylism_06.jpeg| Hurler syndrome. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=160>
Image: Gargoylism_07.png| Hurler syndrome. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=160>
</gallery>
====Extremities====
<gallery>
Image: Gargoylism_08.png| Hurler syndrome. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=160>
Image: Gargoylism_09.jpeg| Hurler syndrome. <SMALL><SMALL>''[http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=12  With permission from Dermatology Atlas.]''<ref name="www.atlasdermatologico.com.br">{{Cite web | title = Dermatology Atlas | url = http://www.atlasdermatologico.com.br/disease.jsf?diseaseId=160>
</gallery>


==References==
==References==
{{Reflist|2}}


{{Reflist|2}}
[[Category:Needs content]]
[[Category:Needs content]]
[[Category:Gastroenterology]]
[[Category:Gastroenterology]]
[[Category:Genetic disorders]]
[[Category:Hepatology]]
[[Category:Hepatology]]
[[Category:Syndromes]]
[[Category:Mature chapter]]
[[Category:Metabolic disorders]]
[[Category:Lysosomal storage diseases]]
[[Category:Cardiology]]
[[Category:Cardiology]]
[[Category:Psychiatry]]
[[Category:Psychiatry]]
[[Category:Disease]]
[[Category:Disease]]
[[Category:Inborn errors of metabolism]]
 
{{WS}}
{{WH}}

Latest revision as of 13:28, 19 July 2016

Hurler Syndrome Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hurler Syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

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Other Imaging Findings

Other Diagnostic Studies

Treatment

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Case #1

Hurler syndrome physical examination On the Web

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CDC on Hurler syndrome physical examination

Hurler syndrome physical examination in the news

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Directions to Hospitals Treating Hurler syndrome

Risk calculators and risk factors for Hurler syndrome physical examination

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Jesus Rosario Hernandez, M.D. [2].

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Overview

The condition is marked by progressive deterioration, hepatosplenomegaly, dwarfism and gargoyle-like faces. There is a progressive mental retardation, with death frequently occurring by the age of 10 years.

Developmental delay is evident by the end of the first year, and patients usually stop developing between ages 2 and 4. This is followed by progressive mental decline and loss of physical skills. Language may be limited due to hearing loss and an enlarged tongue. In time, the clear layers of the cornea become clouded and retinas may begin to degenerate. Carpal tunnel syndrome (or similar compression of nerves elsewhere in the body) and restricted joint movement are common.

Physical examination

Gallery

Head

Trunk

Extremities

References

Template:WS Template:WH

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