Disease-specific standards in congenital syndromes
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Updated: Oct 9, 2026

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Published on: May 5, 2018
1Department of Paediatrics, Eberhard-Karls-Universität, Tübingen, Germany.
Insights
Disease-specific growth standards aid in managing congenital growth disorders. However, current standards require refinement due to inherent study biases before routine clinical use.
Area of Science:
- Pediatrics
- Genetics
- Endocrinology
Background:
- Congenital diseases frequently present with associated growth disorders.
- Developing disease-specific growth standards has been a focus over the last decade.
- These standards are crucial for patient counseling and treatment planning.
Purpose of the Study:
- To highlight the utility of disease-specific growth standards in managing congenital disorders.
- To underscore the importance of considering predicted growth in treatment initiation.
- To discuss the potential of growth patterns in understanding disease pathology.
Main Methods:
- Review of existing literature on growth standards for congenital diseases.
- Analysis of the application of growth standards in clinical practice.
- Identification of biases affecting the accuracy of current growth standards.
Main Results:
- Disease-specific growth standards offer valuable insights into patient prognosis and disease understanding.
- Deviations from predicted growth can signal additional pathological processes.
- Existing growth standards are limited by biases stemming from data collection methodologies.
Conclusions:
- While valuable, current growth standards for congenital diseases are not fully suitable for routine use.
- Addressing biases in the underlying data is essential for improving the reliability of growth standards.
- Further research is needed to develop unbiased and robust growth assessment tools.
Abstract:
A number of congenital diseases are associated with growth disorders. Over the past decade, efforts have been made to define disease-specific growth standards for these diseases. Such standards allow patients to be counselled, and it is useful to take the predicted growth of an individual into account before initiating any treatment regimen. In addition, knowledge of the growth pattern associated with a particular disorder may facilitate a greater understanding of the pathology of the disease, and deviations from the predicted pattern of growth may be indicative of additional disease processes. However, although growth standards are extremely useful, it is important to note that they are subject to a number of biases, which result from the way in which the study on which data used to calculate the standards was conducted. Until these biases are addressed, the standards that are currently available will not be entirely suitable for routine use.
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