GTR Home > Conditions/Phenotypes > Loeys-Dietz syndrome type 1B

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.

Associated genes

  • Also known as: AAT3, FAA3, LDS1B, LDS2, LDS2B, MFS2, RIIC, TAAD2, TGFR-2, TGFbeta-RII, TGFBR2
    Summary: transforming growth factor, beta receptor II (70/80kDa)

Clinical features

  • Umbilical hernia
  • Arachnodactyly
  • Dermal translucency
  • Generalized arterial tortuosity
  • Ascending aortic dissection
  • Talipes equinovarus
  • Intellectual disability
  • Arnold-Chiari malformation
  • Craniosynostosis
  • Retrognathia
  • Blue sclerae
  • Malar flattening
  • Absent distal phalanges
  • Proptosis
  • Micrognathia
  • Hydrocephalus
  • Syndactyly
  • Cleft palate
  • Osteoporosis
  • Inguinal hernia
  • Bifid uvula
  • Hypertelorism
  • Exotropia
  • Abnormality of the sternum
  • Global developmental delay
  • Joint laxity
  • Disproportionate tall stature
  • Defect in the atrial septum
  • Mitral valve prolapse
  • Patent ductus arteriosus
  • Bicuspid aortic valve
  • Ascending aortic aneurysm
  • Scoliosis
  • Pulmonary artery aneurysm
  • Cerebral aneurysm
  • Descending aortic aneurysm
  • Bicuspid pulmonary valve
  • Joint contracture of the hand
  • Postaxial polydactyly
  • Camptodactyly
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