Conditions / Syndrome
Loeys-Dietz syndrome 2
info · Syndrome
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24.
Signs and symptoms
- Patent ductus arteriosus
- Dilatation of the ductus arteriosus
- Arterial tortuosity
- Inguinal hernia
- Osteoporosis
- Aortic root aneurysm
- Hypertelorism
- Joint hypermobility
- Pectus excavatum
- Bifid uvula
Also known as: AAT3; LDS2; Marfan syndrome type II; familial throacic aortic aneurysm 3