Incorporating Rare Disease Growth Monitoring Into Routine Practice to Improve Early Recognition and Diagnosis of Genetic Conditions.

Abstract

Routine growth monitoring includes plotting children on World Health Organization or Centers for Disease Control and Prevention charts that have primarily been developed on typical, healthy populations. However, it is advisable to plot children with known genetic conditions on specialized growth curves (SGCs) when they are available. In this review, we highlight the most common genetic conditions for which SGCs are available, clinical reasons to use SGCs based on specific rare diseases, and how these SGCs can be found. In addition, we raise awareness of the limitations of SGCs and future directions to improve rare disease growth curve accessibility and ease of use into general pediatric practice.