Patients mostly present with these features:
- Aortic root aneurysm and dissection
- Aortic/arterial aneurysm and dissection (widespread and aggressive)
- Arterial tortuosity (most prominently head and neck vessel)
- Osteoarthritis
- Pectus deformity
- Scoliosis
- Cervical spine instability
- Spondylolisthesis
- Joint laxity
- Arachnodactyly
- Camptodactyly
- Club foot
- Pes planus
- Bifid uvula
- Cleft palate
- Retrognathia
- Hypertelorism
- Soft and velvety skin
- Translucent skin
- Easy bruising
- Dystrophic scars
- Striae
- Exotropia
- Myopia
- Pneumothorax
- Hernia
- Dural ectasia
The vascular phenotype in patients with SMAD3 mutations is very similar to TGFBR1/2 patients.