The clinical phenotype of Meester-Loeys syndrome is mainly characterized by early-onset aortic aneurysm and dissection. Other recurrent findings include hypertelorism, pectus 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. All males are affected, while the cardiovascular phenotype of carrying females can range from unaffected to death due to aortic dissection.