De Barsy Syndrome

Common Name(s)

De Barsy Syndrome

De Barsy syndrome is a rare genetic disorder characterized mainly by a prematurely aged-looking face (progeria); cloudy corneas; short stature; and intellectual disability. Affected individuals can have a wide variety of other signs and symptoms, including loose skin folds due to reduced elasticity (cutis laxa); poor muscle tone (hypotonia); movement disorders; and other features that involve the eyes, face, skin and nervous system.  The genetic cause of the condition is not known in most cases, but it is inherited in an autosomal recessive manner. Treatment generally focuses on the signs and symptoms present in each individual and may include early eye surgery and physiotherapy to avoid contractures.
 

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Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "De Barsy Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "De Barsy Syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

De Barsy syndrome and ATP6V0A2-CDG.
 

Author(s): Elisa Leao-Teles, Dulce Quelhas, Laura Vilarinho, Jaak Jaeken

Journal: Eur. J. Hum. Genet.. 2010 May;18(5):526; author reply 526.

 

Last Updated: 22 Apr 2010

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New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV.
 

Author(s): A Jukkola, S Kauppila, L Risteli, K Vuopala, J Risteli, J Leisti, L Pajunen

Journal: J. Med. Genet.. 1998 Jun;35(6):513-8.

 

We describe the clinical findings and biochemical features of a male child suffering from a so far undescribed lethal connective tissue disorder characterised by extreme hypermobility of the joints, lax skin, cataracts, severe growth retardation, and insufficient production of type ...

Last Updated: 14 Aug 1998

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "De Barsy Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.