Course : Cardinal Signs of Six Selected Syndromes

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.



This series will include succinct descriptions of six syndromes. Each description will include the "cardinal signs" (key manifestations which should trigger a clinical diagnosis), additional key components of the syndrome, cause (if known), natural history, and differential diagnosis. At the end of the session, attendees should be more knowledgeable about each of the discussed entities.


All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please  Click Here

Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)


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

1. Describe the cardinal signs of each condition
2. Explain the mode of inheritance and cause of each disorder
3. Recognize the natural history of each condition
4. Describe a reasonable differential diagnosis for each disorder

Purchase without Educational Credits