GTR Home > Conditions/Phenotypes > Loeys-Dietz syndrome type 2A

Disease characteristics

Excerpted from the GeneReview: Loeys-Dietz Syndrome
Loeys-Dietz syndrome (LDS) is characterized by vascular findings (cerebral, thoracic, and abdominal arterial aneurysms and/or dissections) and skeletal manifestations (pectus excavatum or pectus carinatum, scoliosis, joint laxity, arachnodactyly, talipes equinovarus). Approximately 75% of affected individuals have LDS type I with craniofacial manifestations (widely spaced eyes, bifid uvula/cleft palate, craniosynostosis); approximately 25% have LDS type II with systemic manifestations of LDSI but minimal or absent craniofacial features. LDSI and LDSII form a clinical continuum. The natural history of LDS is characterized by aggressive arterial aneurysms (mean age at death 26.1 years) and a high incidence of pregnancy-related complications, including death and uterine rupture.

Clinical features

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  • Dermal translucency
  • Generalized arterial tortuosity
  • Ascending aortic dissection
  • Soft skin
  • Atrophic scars
  • Inguinal hernia
  • Bifid uvula
  • Hyperextensible skin
  • Bruising susceptibility
  • Joint laxity
  • Ascending aortic aneurysm
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