Connective Tissue Clinic

The Hereditary Connective Tissue Clinic is part of the Regional Genetics Program and is located at CHEO. We specialize in the assessment of children, adults and families with familial or hereditary conditions relating to connective tissue in the arteries, the skin and muscles as well as other body systems.

Hereditary Connective Tissue disorders include:

Marfan syndrome
Loeys-Dietz syndrome
Ehlers-Danlos syndromes (excluding the hypermobility subtype)
Familial Thoracic Aortic Aneurysm and Dissection

Our goal is to identify and support children, youth, adults and families with hereditary connective tissue disorders. We help with diagnosis and can give recommendations for care and medical management.

Eligibility criteria for referrals

Physician referral is required. A copy of a recent echocardiogram must be included with the referral for all adult patients.

To be eligible for referral, you must have one or more of the following:

Personal history of thoracic or brain aneurysm, vascular dissection or of hollow organ rupture. Please include a report of relevant medical imaging with your referral.

Family history of thoracic aortic aneurysms or brain aneurysm with either multiple family members having arterial aneurysms, or where the affected family member was under 60 years of age at diagnosis. Please list affected relatives in your referral.

Family history of Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), Ehlers-Danlos syndrome (excluding the hypermobility subtype) or a related condition. Please indicate how the patient is related to the family members diagnosed with this condition and provide a copy of genetic results if available.

Genetics Referral Form

Send an eReferral
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Ineligible referrals

We do not see patients with Hypermobile Ehlers-Danlos Syndrome or joint hypermobility spectrum disorder unless they have features to suggest a rarer subtype of Ehlers-Danlos or LDS or MFS. Please see (here- link to our fax back page) for details about referrals for joint hypermobility or hypermobile Ehlers-Danlos.

The differential diagnosis for hypermobile EDS includes, in addition to primary rheumatologic conditions, a number of heritable connective tissue disorders.

If your patient displays any of the following, please refer them back and indicate this history on the referral:

Very translucent skin
Skin hyper extensibility (2 cm or more on the volar surface of the forearm) AND atrophic scars (both must be present)
Very wide-spaced eyes (hypertelorism)
A bifid uvula
Extremely large bruises (size of a dinner plate) with minimal trauma
Pneumothorax
Atraumatic tendon ruptures
Scoliosis requiring surgery or bracing

For patients in Ontario, there are provincially funded clinics for Ehlers-Danlos syndrome in Toronto that require a physician referral.

We do not accept referrals for adult patients without a recent echocardiogram report.

For resources on joint hypermobility and more, visit CHEO's Connective Tissue Disease resource page.

Before your appointment

You will be sent a family history questionnaire form. Please complete the form and return it to the clinic.
- We will not be able to offer you an appointment until we receive your family history form. If we do not receive the form within 3 months of your referral, your family doctor will be notified that your referral has been declined.
- If you can not complete the family history form within 3 months, please contact the clinic so we can explore other options.
For some patients, additional medical records may be needed. If you are sent a release of information form please complete and return it. Some forms need to be sent to your relative to sign. All forms should be sent back to the clinic.

Contact us

Connective Tissue Clinic, CHEO
Ottawa, Ontario
401 Smyth Road
K1H 8L1

Phone: 613-737-2275
Fax: 613-738-4822

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Need more information?

Visit our Connective Tissue Diseases resource page to learn about a variety of health topics for children and youth and access CHEO recommended websites, books, apps, videos and more!