Course : ACMG Genomics Case Conference January 2017

Ehlers-Danlos Syndrome, Hypermobility Type (EDS-HT), in Children: Differential Diagnosis and Recommendations for Management Hosted by the ACMG Professional Practice and Guidelines Committee

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During The ACMG Genomics Case Conferences, a team from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient case in the area of genomics.  The primary focus of these case conferences will be on the adaptation of exome or genome sequencing technology in clinical care.

Session Description

During this Case Conference, the presenters will review case(s) that illustrate the difficulty of clinical diagnosis of EDS-HT and review case(s) that illustrate challenges in the management of EDS-HT. They will also address areas of clinical uncertainty and common misconceptions.

This activity is supported by an unrestricted educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform.

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Educational Credits Available
Amount of Credits: 1 (CME)
ACMG Members and ACMG Trainees free
ACMG Member with educational credits ($15)
Non-members ($30)
Non-members with educational credits ($55)


At the conclusion of the series, participants should be able to:

1. Describe the clinical utility of whole exome/whole genome sequencing tests

2. Identify clinical indications for whole exome/whole genome sequencing

3. List determinants used to assess the probability of a variant’s pathogenicity

4. Elaborate on the importance of pre-test counseling and consent

5. Distinguish pathologic hypermobility from physiologic hypermobility.

6. Compare the Villefranche criteria for EDS-HT to the Brighton criteria for BJHS and understand their limitations.

7. Recognize the association between JH and chronic, (often) medically refractory multi-articular joint pain.

8. Recognize clinical scenarios that suggest an alternative diagnosis to EDS-HT/BJHS.

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