Loeys-Dietz syndrome

Genetics

• two such syndromes 1A & 1B associated with defects in TGFBR1 & two others (1B & 2B) with TGFBR2
  • Loeys-Dietz syndrome type 1A
  • Loeys-Dietz syndrome type 1B
  • Loeys-Dietz syndrome type 2A
  • Loeys-Dietz syndrome type 2B

Clinical manifestations

• bifid uvula or cleft palate
• hypertelorism
• craniosynostosis
• skeletal features similar to Marfan syndrome
• thin, translucent skin similar to Ehlers-Danlos syndrome

Radiology

• MRI of the entire arterial system, from head to pelvis, baseline & annually

Management

• repair of aortic aneurysm when >= 4.4-4.6 cm

More general terms

• genetic syndrome (multisystem disorder)

More specific terms

• Loeys-Dietz syndrome type 1A; Furlong syndrome; Loeys-Dietz aortic aneurysm syndrome (LDS1A, LDS1)
• Loeys-Dietz syndrome type 1B (LDS1B)
• Loeys-Dietz syndrome type 2A (LDS2A)
• Loeys-Dietz syndrome type 2B (LDS2B); Marfan syndrome type 2