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View Only- Featuring the 2020 Digital Edition of Cardinal Signs of Common and Uncommon Disorders- OnDemand
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Course Information

Genomic Case Conference Featuring the 2020 Digital Edition of Cardinal Signs of Common and Uncommon Disorders (PLOD3-related Disorders, CHOPS Syndrome, and Primrose Syndrome)


Date of Release: December 22, 2020       

Estimate time of completion: 1 hour

Educational Credits are not offered


Session Description

Despite increasing use of next generation molecular analysis, there continues to be a role for clinical evaluation as a part of the patient assessment process. Not every disorder has been molecularly characterized, nor does next generation sequencing always identify the causal variant(s). As a result, is still a role for discussion of clinical manifestations and cardinal signs of conditions potentially encountered in the clinic. It has also become apparent over time that conditions initially considered to be rare are much more common than previously thought. The purpose of this session is to provide information on the natural history, differential diagnoses, and cause (if known) of selected disorders.


  • PLOD3-related Disorders- Paul Hillman, MD, PhD
  • CHOPS Syndrome - Kosuke Izumi, MD, PhD (Presentation) - Ian Krantz, MD, FACMG (Q&A)
  • Primrose Syndrome - Danita Velasco, MD

Target Audience

  1. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
  2. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Learning Objectives

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


  • Describe the clinical utility of whole exome/whole genome sequencing tests
  • Identify clinical indications for whole exome/whole genome sequencing
  • List determinants used to assess the probability of a variant’s pathogenicity


Session Learning Objectives

At the conclusion of this session, participants should be able to:

  • Identify the cardinal signs of the disorders presented in the session
  • Explain the best approach to testing for each condition
  • Describe to patients the natural history of the condition
  • Develop a differential diagnosis for the features of each condition
  • Examine the underlying etiopathogenesis of each condition
  • Review the phenotypic variability of each condition


Paul Hillman, MD, PhD

Assistant Professor Department of Pediatrics, University of Texas

Kosuke Izumi, MD, PhD *not present for this webinar

Clinical Geneticis, Children's Hospital of Philadelphia CHOPS


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Ian Krantz, MD, FACMG

Professor of Pediatrics and Medical Genetics

Children's Hospital of Philadelphia CHOPS


Danita Velasco, MD

Assistant Professor Pediatrics and Munroe-Meyer Institute, University of Nebraska Medical Center


Financial Disclosures

Disclosure Statement

It is the policy of the American College of Medical Genetics and Genomics to plan and implement all of its educational activities in accordance with the ACCME Essentials and Areas and ACCME® Policies to ensure balance, independence, objectivity and scientific rigor. In accordance with the ACCME® Standards for Commercial Support, everyone (speakers, moderators, committee members and staff) who is in a position to control the content of an educational activity certified for AMA PRA Category 1 Credit™ is required to disclose all financial relationships with any commercial interests (see definition below) within the past 12 months that creates a real or apparent conflict of interest. Disclosure must include financial relationships of the individual and those of their spouse/partner. Individuals who do not disclose will be disqualified from participating in a CME activity.

This disclosure pertains to relationships with ACCME-defined commercial interests whose products or services may be related to the subject matter of the presentation topic. Any real or apparent conflicts of interest related to the content of the presentations must be managed prior to the educational activity. ACMG will identify, review and resolve all conflicts of interests prior to an educational activity being delivered to learners.


  • ACMG will follow the ACCME’s expectation that no employees or owners of commercial interests will be involved as planners/faculty/presenters of a CME accredited activity.
  • The ACCME definition of a commercial interest is any entity producing, marketing, re-selling, or distributing health care goods or services consumed by, or used on, patients.
  • The ACCME does not consider providers of clinical service directly to patients to be commercial interests - unless the provider of clinical service is owned, or controlled by, an ACCME-defined commercial interest.
  • Diagnostic laboratories are not considered commercial interests unless they are owned by or have a sister organization which is a commercial interest.


Staff - American College of Medical Genetics and Genomics

The following have nothing to disclose.

Jane Radford, MHA, CHCP

Claudia Barnett

Maximilian Muenke, MD, FACMG


The following presenters have nothing to disclose:

Paul Hillman, MD, PhD

Kosuke Izumi, MD, PhD

Danita Velasco, MD

 Ian Krantz, MD, FACMG



HIPAA Compliance

The ACMG supports medical information privacy.  While the ACMG is not a “covered entity” under HIPAA 1996 and therefore is not required to meet these standards, ACMG wishes to take reasonable steps to ensure that the presentation of individually identifiable health information at ACMG-sponsored events has been properly authorized.  All presenters have completed a form indicating whether they intend to present any form of individually identifiable healthcare information.  If so, they were asked either to attest that a HIPAA-compliant consent form is on file at their institution, or to send ACMG a copy of the ACMG HIPAA compliance form. This information is on record at the ACMG Administrative Office and will be made available on request.

Content Validation

ACMG follows the ACCME policy on Content Validation for CME activities, which requires:


Content Validation and Fair Balance

  1. ACMG follows the ACCME policy on Content Validation for CME activities, which requires:
  1. All recommendations involving clinical medicine must be based on evidence that is accepted within the profession of medicine as adequate justification for their indications and contraindications in the care of patients.
  2. All scientific research referred to, reported or used in CME in support or justification of patient care recommendations must conform to the generally accepted standards of experimental design, data collection and analysis.


  1. Activities that fall outside the definition of CME/CE; “Educational activities that serve to maintain, develop, or increase the knowledge, skills, and professional performance and relationships that a physician uses to provide services for patients, the public, or the profession” (source: ACCME and AMA) will not be certified for credit. CME activities that promote recommendations, treatment, or manners of practicing medicine or pharmacy that are not within the definition of CME/CE or, are known to have risks or dangers that outweigh the benefits or, are known to be ineffective in the treatment of patients.
  2. Presentations and CME/CE activity materials must give a balanced view of therapeutic options; use of generic names will contribute to this impartiality.  If the CME/CE educational materials or content includes trade names, where available, trade names from several companies must be used.

Off-label Uses of Products

When an off-label use of a product, or an investigational use not yet approved for any purpose, is discussed during an educational activity, the accredited sponsor shall require the speaker to disclose that the product is not labeled for the use under discussion, or that the product is still investigational. Discussions of such uses shall focus on those uses that have been subject of objective investigation.


The ACMG does not endorse, or recommend the use of this educational program to make patient diagnoses, particular by individuals not trained in medical genetics. Adherence to the information provided in these programs does not necessarily ensure a successful diagnostic outcome. The program should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or test, a healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.


Availability: On-Demand
Cost: ACMG Member: $0.00
Non-Member: $30.00
Postdoc/Trainee (M): $0.00
Postdoc/Trainee (NM): $30.00
Student (M): $0.00
Student (NM): $30.00
Credit Offered:
No Credit Offered

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