Conditions / Syndrome
Loeys-Dietz syndrome 3
info · Syndrome
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q.
Signs and symptoms
- Intervertebral disk degeneration
- Osteochondritis dissecans
- Thoracic aortic aneurysm
- Pes planus
- Aortic aneurysm
- Dural ectasia
- Long face
- Uterine prolapse
- Varicose veins
- Osteopenia
Also known as: LDS1C; LDS3; Loeys-Dietz syndrome type 1C; Loeys-Dietz syndrome with osteoarthritis; aneurysms-osteoarthritis syndrome