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Lyulcheva-Bennett et al. J Transl Genet Genom 2023;7:259-73 Journal of Translational
DOI: 10.20517/jtgg.2023.33
Genetics and Genomics

Review Open Access

Towards an understanding of the aetiology, genomic
landscape and management of Moebius syndrome

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Ekaterina Lyulcheva-Bennett 1 , Wendy Blumenow , Adelene O’Connor , Maria Kelly , Daimark Bennett ,
Adel Fattah 4,6
1
Liverpool Centre for Genomic Medicine, Moebius Syndrome Rare Disease Collaborative Network, Liverpool Women’s NHS
Founation Trust, Liverpool L8 7SS, UK.
2
Department of Paediatric Speech and Language Therapy, Alder Hey Children’s NHS Foundation Trust, Liverpool L14 5AB, UK.
3
Clinical Health Psychology, Alder Hey Children’s NHS Foundation Trust, Liverpool L14 5AB, UK.
4
Regional Paediatric Burns and Plastic Surgery Service, Alder Hey Children’s NHS Foundation Trust, Liverpool L14 5AB, UK.
5
Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester, Michael
Smith Building, Manchester L13 9PT, UK.
6
Facial Nerve Programme, Alder Hey Children’s NHS Foundation Trust, Liverpool L14 5AB, UK.
Correspondence to: Dr. Ekaterina Lyulcheva-Bennett, Liverpool Centre for Genomic Medicine, Moebius Syndrome Rare Disease
Collaborative Network, Liverpool Women’s NHS Founation Trust, Crown Street, Liverpool L8 7SS, UK. E-mail:
katya.bennett@lwh.nhs.uk
How to cite this article: Lyulcheva-Bennett E, Blumenow W, O’Connor A, Kelly M, Bennett D, Fattah A. Towards an
understanding of the aetiology, genomic landscape and management of Moebius syndrome. J Transl Genet Genom 2023;7:259-
73. https://dx.doi.org/10.20517/jtgg.2023.33
Received: 29 Aug 2023 First Decision: 21 Nov 2023 Revised: 28 Nov 2023 Accepted: 7 Dec 2023 Published: 19 Dec 2023

Academic Editor: Sanjay Gupta Copy Editor: Fangyuan Liu Production Editor: Fangyuan Liu

Abstract
Moebius Syndrome (MBS) is a rare neurodevelopmental disorder characterised by facial paralysis and ocular
motility defects. Its origins trace back to the 19th century, with its clinical delineation attributed to German
neurologist Paul Möbius. The syndrome presents with a spectrum of variable systemic clinical features,
necessitating a multidisciplinary approach to diagnosis and management. The prevalence of MBS has been
estimated to range between 1 in 50,000 to 1 in 500,000 individuals, with a universal distribution across ethnicities
and genders. The aetiology of MBS is poorly understood but is likely multifactorial, with developmental, genetic,
and environmental factors playing roles. Recent research has identified potential genetic contributors, REV3L and
PLXND1, but further work is needed to elucidate the genetic landscape of this rare neurodevelopmental disorder.
Here we describe the current understanding of the clinical features, aetiology, genetic landscape, and management
of MBS, emphasising the importance of early diagnosis and a holistic approach to patient care. We also propose a
set of criteria aimed at standardising MBS reporting to enhance information sharing and bolster MBS research

© The Author(s) 2023. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
indicate if changes were made.

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