Conditions / Syndrome
Loeys-Dietz syndrome 4
info · Syndrome
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41.
Signs and symptoms
- Ascending tubular aorta aneurysm
- Bifid uvula
- Chronic pain
- Aortic root aneurysm
- High, narrow palate
- Inguinal hernia
- Arterial tortuosity
- High palate
- Tarlov cyst
- Aortic tortuosity
Also known as: Aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations; LDS4