MUTATION: TGFBR1

DISORDER NAME: Furlong, Loeys-Dietz syndrome 1

MOLECULAR PATHWAY: TGF-B Vasculopathy

features

  • Thoracic aortic aneurysm and dissections (TAAD)

- Aortic at risk of dissection <5cm

- Intracranial and other arteries aneurysms and dissections

  • Vascular tortuosity
     
  • MFS like skeletal findings
     
  • Craniofacial manifestations

- Hypertelorism

- Bifid uvula (cleft palate)

- Craniosynostenosis

  • Other features may occur

- Easy bruising

- Atrophic scars

- Uterine rupture with pregnancy

- Allergic disorders

  • IBS


Individuals with TGFBR1 mutations can meet diagnostic criteria of MFS or have non-syndromic features

Proportion of non-syndromic FTAAD attributed to mutation of TGFBR1 is 1%