Loeys-Dietz Syndrome (LDS) is a genetic autosomal dominant connective tissue. First described 2005 individuals with LDS can have issues in areas such as cardiovascular, musculoskeletal, skin and gastrointestinal system.
Features that set it apart from other connective tissue disorders such as EDS and Marfan Syndrome are Aneurysms, Arterial Tortuosity (twisting arteries), Hypertelorism (widely spaced eyes) and Bifid/broad uvula.
LDS is diagnosed by a geneticist who will look for the mutations specific to LDS of which there are five possible genetic causes
LDS - 1: Transforming growth factor beta-receptor 1 (TGFβR1)
LDS - 2: Transforming growth factor beta-receptor 2 (TGFβR2)
LDS - 3: Mothers against decapentaplegic homolog (SMAD-3)
LDS - 4: Transforming growth factor beta-2 ligand (TGFβ2)
LDS - 5: Transforming growth factor beta-3 ligand TGFFβ3.
While this is considered an inherited condition some cases of spontaneous genetic mutation can occur. Other testings such as an echocardiogram (to assess aortic enlargement), CT or MR angiograms, 3D CTA or MRA.
Due to the similarities between Loeys-Dietz, Marfan and Ehlers-Danlos, these all may be a potential differential diagnosis a geneticist will consider. There are some cases of both EDS and LDS in the same patient.
For more information on Loeys-Dietz Syndrome check out their foundation here.