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

Natasha Shur1,2, Seth Berger1, Andrew Dauber2

  • 1Rare Disease Institute: Genetics and Metabolism.

Pediatric Annals
|September 9, 2025
PubMed

Insights

Specialized growth curves (SGCs) aid monitoring children with genetic conditions. This review identifies available SGCs for rare diseases, discusses their clinical use, and suggests improvements for pediatric practice.

Area of Science:

  • Pediatric Endocrinology
  • Clinical Genetics
  • Growth Monitoring

Background:

  • Standard growth charts (World Health Organization, Centers for Disease Control and Prevention) are based on typical populations.
  • Children with genetic conditions may require specialized growth curves (SGCs) for accurate monitoring.
  • Availability of SGCs for rare diseases is inconsistent.

Purpose of the Study:

  • To review common genetic conditions with available SGCs.
  • To outline clinical indications for using SGCs in rare diseases.
  • To guide clinicians on locating and utilizing SGCs.

Main Methods:

  • Literature review of published studies and databases.
  • Identification of rare diseases with established SGCs.
  • Analysis of clinical relevance and accessibility of SGCs.

Main Results:

  • Highlights common genetic conditions with available SGCs.
  • Details clinical rationale for employing SGCs in specific rare diseases.
  • Provides information on how to find and access these specialized resources.

Conclusions:

  • SGCs are crucial for appropriate growth assessment in children with genetic disorders.
  • Awareness of SGC limitations and future directions is needed.
  • Improving accessibility and integration of SGCs into pediatric practice is essential.

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