Conditions / Syndrome
Loeys-Dietz syndrome 6
info · Syndrome
A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21.
Signs and symptoms
- Short stature
- Bicuspid aortic valve
- Midface retrusion
- Arterial tortuosity
- Osteoarthritis
- Long face
- Intervertebral disk degeneration
- Thoracic aortic aneurysm
- Arthralgia
- Bruising susceptibility