Clinical Characteristics

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

  • Thoracic and abdominal aortic aneurysm and dissection: pathological enlargement and rupture of the aorta at the level of the chest or the abdomen.
  • Mitral valve prolapse or regurgitation: bulging of the mitral valve leaflets into the left atrium or incomplete mitral valve closure.
  • Hypertelorism: wide-spaced eyes.
  • Exotropia: outward turning of the eyes.
  • Rethrognatia: a small or retracted lower jaw.
  • Bifid uvula or cleft palate: a split uvula or palate.
  • Cervical spine instability: excessive movement of the cervical spine.
  • Pectus excavatum/carinatum: a breastbone that is pushed outward or sunken inward.
  • Scoliosis: abnormal curvature of the spine.
  • Club foot: one or both feet are rotated inwards and downwards.