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GoodHope EDS Exclusion Criteria:

 

If your patient has any of the following, they will require a more comprehensive connective tissue assessment outside of the GoodHope EDS clinic.

 

Please refer your patients to your local medical genetics clinic for assessment of CONNECTIVE TISSUE DISORDER (NON-EDS) if they have any of the following:

 

  • A first-degree relative with another genetically confirmed connective tissue disorder (eg. Marfan or Loeys-Dietz syndrome)

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  • An abnormal echocardiogram (e.g. dilatation of aorta, congenital heart defects)

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  • Unexplained aneurysm(s) of thoracic aorta, or brain OR first degree relative with aneurysm under age 60 at diagnosis

 

  • History of any arterial dissection

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  • Severe scoliosis (requiring intervention)

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  • Unexplained spontaneous pneumothorax

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  • Distinctive facial features including hypertelorism (measure interpupillary distance and include with referral) and/or bifid uvula and/or cleft palate

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  • Tendon ruptures without trauma (not sports-related)

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  • Congenital heart defects or congenital anomalies

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  • Craniosynostosis

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