Conditions / Syndrome
Loeys-Dietz syndrome 1
info · Syndrome
A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22.
Signs and symptoms
- Strabismus
- Chronic fatigue
- Pes planus
- Striae distensae
- Dural ectasia
- Pectus excavatum
- Supernumerary ribs
- Facial asymmetry
- Inguinal hernia
- Hypoplasia of the musculature
Also known as: AAT5; Furlong syndrome; LDS1; familial throacic aortic aneurysm 5