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Review
. 2021 Jun 29:10:59.
doi: 10.12703/r/10-59. eCollection 2021.

Rett syndrome: think outside the (skull) box

Emilie Borloz  1 , Laurent Villard  1 , Jean-Christophe Roux  1
Affiliations
Review

Rett syndrome: think outside the (skull) box

Emilie Borloz et al. Fac Rev. .

Abstract

Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder characterized by neurodevelopmental regression between 6 and 18 months of life and associated with multi-system comorbidities. Caused mainly by pathogenic variants in the MECP2 (methyl CpG binding protein 2) gene, it is the second leading genetic cause of intellectual disability in girls after Down syndrome. RTT affects not only neurological function but also a wide array of non-neurological organs. RTT-related disorders involve abnormalities of the respiratory, cardiovascular, digestive, metabolic, skeletal, endocrine, muscular, and urinary systems and immune response. Here, we review the different aspects of RTT affecting the main peripheral groups of organs and sometimes occurring independently of nervous system defects.

Keywords: Mecp2; Rett syndrome; comorbidities; peripheral systems.

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Conflict of interest statement

The authors declare that they have no competing interests.No competing interests were disclosed.No competing interests were disclosed.No competing interests were disclosed.No competing interests were disclosed.

Figures

Figure 1.
Figure 1.. Rett syndrome-related organ system disorders involve abnormalities of the respiratory, cardiovascular, digestive, metabolic, skeletal, endocrine, muscular, and urinary system.
Graphical representation of the organ systems affected in a patient with Rett syndrome. The schematic art pieces used in this figure were provided by Servier Medical Art (https://smart.servier.com/). Servier Medical Art by Servier is licensed under the terms of Creative Commons Attribution 3.0 Unported License (CC BY 3.0).
See this image and copyright information in PMC

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