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What should I do if I think my daughter has Ehlers Danlos Syndrome?

Ehler’s Danlos Syndrome is a genetically inherited disorder of collagen in which the patient suffers from loose joints, hyperelastic skin, and easily damaged blood vessels. There are several tests that can be performed to determine if your daughter has Ehlers Danlos such as collagen testing and lysl oxidase/hydroxylase activity testing.

Patients with Ehler’s Danlos have a normal expected IQ and normal life expectancy. However, depending on the type of Ehler’s Danlos, your daughter may be at risk for increase vascular damage and increased risk of sudden death due to major blood vessel rupture.

You should consult a geneticist, your family care physician, as well as a cardiologist for recommendations regarding testing, prognosis, and possible preventative measures for your daughter.

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