The Approach to a Child with Dysmorphic Features: What the Pediatrician Should Know

Abstract

The advancement of genetic knowledge and the discovery of an increasing number of genetic disorders has made the role of the geneticist progressively more complex and fundamental. However, most genetic disorders present during childhood; thus, their early recognition is a challenge for the pediatrician, who will be also involved in the follow-up of these children, often establishing a close relationship with them and their families and becoming a referral figure. In this review, we aim to provide the pediatrician with a general knowledge of the approach to treating a child with a genetic syndrome associated with dysmorphic features. We will discuss the red flags, the most common manifestations, the analytic collection of the family and personal medical history, and the signs that should alert the pediatrician during the physical examination. We will offer an overview of the physical malformations most commonly associated with genetic defects and the way to describe dysmorphic facial features. We will provide hints about some tools that can support the pediatrician in clinical practice and that also represent a useful educational resource, either online or through apps downloaded on a smartphone. Eventually, we will offer an overview of genetic testing, the ethical considerations, the consequences of incidental findings, and the main indications and limitations of the principal technologies.

Keywords: congenital malformation; dysmorphic feature; genetic syndrome; genetic testing; intellectual disability; neurodevelopmental delay.

Figure 1

Facial regions (A): (a) sagittal line passing through the glabella; (b) head circumference; (c) Frankfurt plane passing under the inferior margin of the orbit and the ear canal; (d) longitudinal axis of the ear; (e) perpendicular to the Frankfurt plane; * in normally set ears this angle is around 20°. (B): (a) intercanthal distance; (b) line passing through the inner canthi and extended to the ears; (c) nasal bridge; (d) philtrum; (e) oral commissure.

Figure 2

The approach to treating a child with suspicion of congenital syndrome: diagnostic algorithm.