Variants
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Cutis laxa, autosomal dominant 1

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Description

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.

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Heterogeneous

VARIANTS

91

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Genes

External Links

  • OMIM

    123700

  • Orphanet
  • HPO
  • Medgen

    C3276539

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