Autosomal recessive cutis laxa type 1

Common Name(s)

Autosomal recessive cutis laxa type 1

Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by {4:Hoyer et al., 2009}). For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A ({219100}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Autosomal recessive cutis laxa type 1" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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