MUTATION: SMAD 3

DISORDER NAME: Aneurysms Osteoarthritis syndrome (AOS) 

features

• Thoracic aortic aneurysm and dissection (TAAD)
• Vascular tortuosity
• Intercranial and other peripheral arteries aneurysms and dissections
• Early onset of osteoarthritis
• MFS or LDS features observed in patients:

- Thin skin

- Hypertelorism

- Bifid uvula (cleft palate)

- Chest deformity

- Scoliosis

- striae atrophicae

- High arched palate

- Dolicocephaly

- history of hernia

- Thumb and/or wrist sign

- osteoarthritis

Patients with SMAD3 mutations identified in families with FTAAD, had absent features of MFS/LDS.

The same patients had:

- Thoracic aortic aneurysm and dissections (TAAD

- Abdominal aorta, intracranial and other arterial aneurysms

- The onset of dissection between ages 25-54 (mean 42)

- Average age of aortic root aneurysm diagnoses was between ages 17-74 (mean 37 years)