The American College of Medical Genetics has a medical genetics database you can use to find a knowledgeable geneticist in your area. Helpful search terms include: connective tissue, bone/skeletal disorders, cardiovascular/connective tissue, adult congenital heart disease, adult medical genetics, pediatric genetics, and genetics counseling.
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Vascular Ehlers-Danlos Syndrome (VEDS)
Ehlers-Danlos syndrome is a group of connective tissue disorders that are characterized by unstable, hypermobile joints, loose, “stretchy” skin, and tissue fragility. It is caused by a defect in the connective tissue. The fragile tissues and skin and unstable joints found in Ehlers-Danlos syndrome are due to a gene mutation in collagen. What other names […]
Tags: VEDS , Patients & Families
MASS Phenotype
MASS Phenotype is a connective tissue disorder that is similar to Marfan syndrome in that people with the condition have the similar Mitral valve, Aorta, Skin, and Skeletal features. People with MASS phenotype do not have lens dislocation, but rather myopia (nearsightedness), and do not show progressive and dangerous aortic root enlargement, hallmark features of Marfan syndrome. What other […]
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