Loeys-Dietz syndrome type 2A (LDS2A)

Pathology

• aortic aneurysm syndrome with widespread systemic involvement

Genetics

• associated with defects in TGFBR1

Clinical manifestations

• prominent joint laxity
• easy bruising
• wide & atrophic scars
• velvety & translucent skin with easily visible veins
• spontaneous rupture of the spleen or bowel
• diffuse arterial aneurysms & dissections
• catastrophic complications of pregnancy, including rupture of the gravid uterus & the arteries, either during pregnancy or in the immediate postpartum period
• absence of craniofacial abnormalities with the exception of bifid uvula that can be present in some patients

More general terms

• Loeys-Dietz syndrome
• familial aortic aneurysm

Database

• OMIM: https://mirror.omim.org/entry/608967