Why do heritable disorders of connective issue often go undiagnosed and misdiagnosed? There are over 200 types of heritable disorders of connective tissue (HDCT). Some physical features of HDCT, such as joint hypermobility, are common in the general population, and distinguishing syndromic from non-syndromic presentations can be clinically challenging. Understanding the utility and limitations of available genetic testing is important in diagnosis, counseling, and facilitating care for patients seeking evaluation for a HDCT.
In this educational webinar, Dr Mitzi L. Murray will review commonly encountered presentations that raise concern for a possible diagnosis of a heritable disorder of connective tissue. Case examples will be presented to highlight genetic testing options and considerations.
- Review clinical characteristics, differential diagnoses, and molecular causes for the different HDCT with a focus on the Ehlers-Danlos syndromes
- Describe genetic testing options and limitations for this patient population
- Examine the challenges and opportunities in evaluating patients with a suspected HDCT
- Discuss case examples to highlight clinical considerations for genetic testing
Mitzi L. Murray
Mitzi L. Murray, MD, MA, FACMG, received her BS in Biological Sciences from Ohio University, MA in Bioethics at University of Washington, and MD at the University of Texas Southwestern Medical Center. She completed her American Board of Medical Genetics and Genomics (ABMGG) training at the University of Washington and is board certified in Clinical Genetics and Clinical Molecular Genetics. Mitzi joined Blueprint Genetics in 2021.
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