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Trends in Developmental Biology   Volumes    Volume 13 
Analysing the developmental origins of common craniofacial disorders to revise the nosology of Ehlers-Danlos syndromes
Ellen Potoczky, Sophie Wiszniak, Peter Anderson, Quenten Schwarz
Pages: 45 - 76
Number of pages: 32
Trends in Developmental Biology
Volume 13 

Copyright © 2020 Research Trends. All rights reserved

The Ehlers-Danlos syndromes (EDS) are a group of heterogenous, heritable connective tissue disorders characterized by tissue fragility, skin hyperextensibility and joint hypermobility arising from developmental defects. The current classification recognizes thirteen subtypes, which, in addition to the aforementioned hallmark features, present with an extensive array of alternative phenotypes including organ and vascular dysfunction and craniofacial dysmorphologies. Here, we consider the developmental origins of these disorders with a focus on a specialised population of stem cells termed the neural crest. Initially in a pluripotent state, this population of cells contributes to multiple tissues affected in EDS, suggesting that the intrinsic and extrinsic influences that govern neural crest activity should be considered when trying to understand the etiology of these disorders. Additionally, while the 2017 International Classification of Ehlers-Danlos syndromes proposed an alternative grouping of EDS subtypes to account for gene regulatory networks and protein-protein interactions, we propose a further revision to the EDS classification with greater consideration given to the underlying molecular mechanisms involved in regulating development of the affected areas. We use a transcription factor which gives rise to an EDS subtype, termed brittle cornea syndrome (BCS), to consolidate the disorders included under the EDS umbrella, and to identify other disorders that meet this criteria. In this way, we aim to inform future mechanistic developmental studies, improve diagnostic accuracy whilst also informing on potential therapeutic targets, thereby minimizing the need for surgical interventions.
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