Mabry Syndrome

Activity Details
  • Credit Amounts:
    • CME: 1.00
    • Other: 1.00
  • Cost: Free
  • Release: May 27, 2020
  • Expires: May 26, 2023
  • Estimated Time to Complete:
    1 Hour(s)
  • Average User Rating:
    (2 Ratings)

Faculty

Miles Thompson Miles Thompson, PhD
Assistant Project Scientist
Department of Pediatrics
UCSD School of Medicine
La Jolla, California

Needs Statement

Mabry Syndrome is a condition characterized by intellectual disability, distinctive facial features, increased serum levels of the enzyme called alkaline phosphatase and other signs and symptoms. People with Mabry Syndrome have intellectual disability that is often moderate to severe. This module will increase the awareness of this rare genetic disorder, and others like it, and the rapid evolution in identification of these disorders.

Target Audience

Physicians, Nurse Practitioners, Nurses, Social Workers, Certified Medical Coders, Medical Students, Pediatric Residents, Interns and Fellows.

Objectives

Upon completion of this activity, participants will be able to:  

  • Describe the features of Mabry Syndrome.
  • Discuss how rare genetic syndromes are identified.
  • Describe how current technology has augmented discovery around rare genetic disorders using Mabry syndrome as an example.

Accreditation

CME
The University of Kentucky College of Medicine is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

The University of Kentucky College of Medicine designates this enduring material for a maximum of 1.00 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

The University of Kentucky College of Medicine presents this activity for educational purposes only. Participants are expected to utilize their own expertise and judgment while engaged in the practice of medicine. The content of the presentations is provided solely by presenters who have been selected for presentations because of recognized expertise in their field.

ACGME Competencies

  • Patient care
  • Medical knowledge
  • Systems-based practice

Other
UK Healthcare CECentral certifies this activity for 1.00 hour of participation.

Faculty Disclosure

No speakers, authors, planners or content reviewers have any relevant financial relationships to disclose. 

The material presented in this course represents information obtained from the scientific literature as well as the clinical experiences of the speakers. In some cases, the presentations might include discussion of investigational agents and/or off-label indications for various agents used in clinical practice. Speakers will inform the audience when they are discussing investigational and/or off-label uses.

Content review confirmed that the content was developed in a fair, balanced manner free from commercial bias. Disclosure of a relationship is not intended to suggest or condone commercial bias in any presentation, but it is made to provide participants with information that might be of potential importance to their evaluation of a presentation.

Acknowledgement

In collaboration with UK Department of Pediatrics.