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.
Related Resources
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
Cirugía Para Reparar la Raiz Aortica en el Síndrome de Marfan
La dilatación de la raíz de la aorta es cuando el segmento de la aorta más cercano al corazón se encuentra agrandado. Este es un problema muy serio y muy común para personas con síndrome de Marfan. Con frecuencia el tratamiento para cuando la raíz aortica alcanza cierto tamaño es una cirugía; si la raíz […]
Tags: Marfan Syndrome , Patients & Families
Shprintzen-Goldberg Syndrome Fact Sheet
Shprintzen-Goldberg Syndrome is a condition that affects many parts of the body. People who have this syndrome have a combination of unique facial features and skeletal and neurological abnormalities. Shprintzen-Goldberg syndrome is caused by genetic changes (mutations) in a gene that contributes to the formation of connective tissue. How prevalent is Shprintzen-Goldberg syndrome? What are […]
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