arterial tortuosity syndrome

Pathology

• tortuosity & elongation of major arteries
• common features
  • aneurysms of large arteries
  • stenosis of the pulmonary artery
• fragmentation of elastic fibers in the tunica media of large arteries

Genetics

• autosomal recessive
• associated with defects in SLC2A10

Clinical manifestations

• death at young age is common
• facial features
• connective tissue manifestations including soft skin & joint laxity

More general terms

• genetic syndrome (multisystem disorder)
• arterial disease

Database

• OMIM: https://mirror.omim.org/entry/208050