TGFB3

Clinical Characteristics

Clinical features associated with the syndrome caused by mutations in the TGFB3 gene:

  • Thoracic and abdominal aortic aneurysm and dissection
  • Mitral valve prolapse or regurgitation
  • Hypertelorism
  • Exotropia
  • Rethrognatia
  • Bifid uvula or cleft palate
  • Cervical spine instability
  • Pectus excavatum/carinatum
  • Scoliosis
  • Club foot