Patients may present with these features:
- Aortic root dilatation: widening of the aortic root
- Aortic/arterial aneurysm (widespread and aggressive): widening of the aorta and arteries
- Arterial tortuosity (mostly head and neck vessel): abnormal twists and turns of blood vessels
- Osteoarthritis: inflammatory breakdown of joint cartilage and underlying bone
- Pectus deformity: inward or outward malformation of the chest bone
- Scoliosis: abnormal curvature of the spine
- Joint laxity
- Arachnodactyly: extreme long and slender fingers
- Camptodactyly: contractures of fingers
- Club foot: one or both feet are rotated inwards and downwards
- Pes planus: flat feet
- Cervical spine instability: excessive movement of the cervical spine
- Bifid uvula: a split uvula
- Cleft palate: a split palate
- Hypertelorism: widely spaced eyes
- Soft and velvety skin
- Translucent skin
- Easy bruising
- Dystrophic scars
- Striae: stretch marks
- Exotropia: outward turning of the eyes
- Myopia: near-sightedness
- Pneumothorax: collapsed lung
- Hernia: inguinal or umbilical
- Dural ectasia: ballooning of the dural sac
The aortic phenotype in patients with genetic defects in SMAD3 is very similar to that one of patients with a genetic defect in TGFBR1/2 genes.