Meester-Loeys syndrome is characterized by early-onset widening and rupture of the thoracic aorta. Other recurrent findings include widely spaced eyes, chest deformity, joint hypermobility, contractures, and mild skeletal dysplasia.
To date, five different families with a mutation in BGN have been described. The disease follows an X-linked inheritance pattern. This means that all males are affected, while females can range from unaffected to death due to aortic dissection.