Connective tissue disorders
Getting the right diagnosis can change everything.
Joint hypermobility, chronic pain, fragile skin, vascular findings, and a long history of unexplained symptoms may point to an underlying genetic connective tissue disorder. The right diagnosis informs treatment decisions and family planning, and brings the relief of understanding what has been happening in your body.
Many connective tissue conditions can look alike and still need very different care. A specific diagnosis guides which parts of the body need monitoring, how often, and what your relatives should know.
Telehealth appointments are available by video or phone. No referral required.
You might be a fit if:
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You have joint hypermobility along with chronic pain, dislocations, or injuries that are slow to heal
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Your skin is unusually stretchy, fragile, or slow to heal
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You or a relative has had an aneurysm, a dissection, or another unexplained blood vessel finding
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You have been told you may have Ehlers-Danlos syndrome, Marfan syndrome, or a related condition
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A relative has been diagnosed with a connective tissue condition
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You have symptoms across several body systems that no single explanation has tied together
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You have a hypermobility or connective tissue concern you would like evaluated, whatever it is
What working with us looks like
We review your symptoms, your medical history, and your family history in detail, looking at the whole body instead of one system at a time. We help clarify which conditions fit your picture, guide appropriate genetic testing, and explain what your results mean in plain language.
We work alongside your medical team to ensure that genetic findings are integrated into your overall care, and we provide support for family members who may also be at risk.
Diagnosing connective tissue disorders
Genetic counseling provides invaluable guidance, but an in-person physical examination by a medical geneticist remains the gold standard for evaluating suspected connective tissue disorders. We strongly recommend pursuing this whenever possible.
You have been searching for answers. We are here to help you find them.
Common questions
Can genetic testing diagnose hypermobile EDS?
Not on its own. There is currently no genetic test for hypermobile EDS, which is diagnosed through a clinical evaluation. Testing matters because it can identify or rule out other connective tissue conditions that look similar and need different monitoring.
I'm hypermobile but have never had a diagnosis. Is this worth pursuing?
If hypermobility comes with pain, injuries, or symptoms in other parts of your body, an evaluation can clarify whether a connective tissue condition is part of the picture and what to do next.
What does a diagnosis mean for my family?
Many connective tissue conditions are inherited, so a diagnosis can matter for parents, siblings, and children. We explain the inheritance pattern and help relatives understand their own testing options.