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GTR Home > Conditions/Phenotypes > Cutis laxa, autosomal dominant 1

Summary

Excerpted from the GeneReview: FBLN5-Related Cutis Laxa
FBLN5-related cutis laxa is characterized by cutis laxa, early childhood-onset pulmonary emphysema, peripheral pulmonary artery stenosis, and other evidence of a generalized connective disorder such as inguinal hernias and hollow viscus diverticula (e.g., intestine, bladder). Occasionally, supravalvar aortic stenosis is observed. Intrafamilial variability in age of onset is observed. Cardiorespiratory failure from complications of pulmonary emphysema (respiratory or cardiac insufficiency) is the most common cause of death.

Genes See tests for all associated and related genes

  • Also known as: ADCL1, SVAS, WBS, WS, ELN
    Summary: elastin

Clinical features

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