SMAD3

Clinical Characteristics

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.