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.