Dysmorphology

Alexander Youngjoon Kim; Joann Norma Bodurtha

doi:10.1542/pir.2018-0331

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Alexander Youngjoon Kim, MD*
Joann Norma Bodurtha, MD, MPH*,^†

^*Department of Genetic Medicine,
^†Departments of Pediatrics and Oncology, Johns Hopkins University School of Medicine, Baltimore, MD

AUTHOR DISCLOSURE
Drs Kim and Bodurtha have disclosed no financial relationships relevant to this article. This commentary does contain a discussion of an unapproved/investigative use of a commercial product/device.

Abbreviations:

CHARGE:: coloboma, heart defect, choanal atresia, restricted growth, genitourinary anomaly, ear anomaly
OMIM:: Online Mendelian Inheritance in Man
POSSUM:: Pictures of Standard Syndromes and Undiagnosed Malformations

Education Gaps

Children and families affected by genetic conditions frequently experience protracted diagnostic odysseys requiring the use of complex esoteric tests.
A recent survey of the American Academy of Pediatrics membership revealed that pediatricians are aware of the importance of genetic medicine. However, it also revealed that medical training has not prepared most of them to direct genetic evaluations and order genetic testing.
Referrals to genetic subspecialists for evaluation, counseling, and testing can be challenging for patients and their families.
The rapid evolution of genetic medicine, including the number of known genetic conditions and the availability of diagnostic testing methods, necessitates ongoing education.

Objectives

After completing this article, readers should be able to:

Recognize a distinctive pattern of dysmorphic features concerning for a genetic condition.
Construct a genetic differential diagnosis through the use of resources such as the Online Mendelian Inheritance in Man® database and literature review.
Appreciate the complexities of genetic testing and discussing the results.
Demonstrate familiarity with the clinical findings of CHARGE syndrome, Cowden syndrome, and Loeys-Dietz syndrome.
Appreciate the importance of newborn screening and the availability of resources such as ACTion sheets and confirmatory algorithms for pediatricians.

Introduction

It is time to stop thinking of genetic medicine as only applicable to a small set of rare diseases affecting a limited cohort of patients. Although individual genetic diagnoses are rare, their aggregate effect on human health is not. An estimated 8% of live births are affected by a Mendelian condition, which is associated with variation in a single gene, and/or a congenital anomaly. (1) In addition, the molecular basis is now known for more than 6,500 Mendelian conditions, genetic susceptibilities, and other …