Moebius Syndrome Foundation

Research Articles

Below is a selection of research articles on Moebius syndrome. The Moebius Syndrome Foundation has funded more than $1.3 million (USD) in research towards the condition.

You may also want to search the NIH National Library of Medicine PubMed database for the topic “Moebius syndrome” for additional research articles.

Please note that some of these articles may be behind a paywall due to the publisher’s policies.

Research on Moebius Syndrome

A selection of research articles on Moebius syndrome
A woman's hand holds a mirror fragment, which she sees herself

PSYCHOLOGY

2024

Increasing disability inclusion through self-relevant research

Kathleen R. Bogart

Nature Communications Psychology

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The following article summarizes the journal article.

Disability Research: Nothing About Us Without Us

 

 

 

DNA strand

GENETICS

2023

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Alan P. Tenney, Silvio Alessandro Di Gioia, Bryn D. Webb, Wai-Man Chan, Elke de Boer, Sarah J. Garnai, Brenda J. Barry, Tammy Ray, Michael Kosicki, Caroline D. Robson, Zhongyang Zhang, Thomas E. Collins, Alon Gelber, Brandon M. Pratt, Yuko Fujiwara, Arushi Varshney, Monkol Lek, Peter E. Warburton, Carol Van Ryzin, Tanya J. Lehky, Christopher Zalewski, Kelly A. King, Carmen C. Brewer, Audrey Thurm, Joseph Snow, Flavia M. Facio, Narisu Narisu, Lori L. Bonnycastle, Amy Swift, Peter S. Chines, Jessica L. Bell, Suresh Mohan, Mary C. Whitman, Sandra E. Staffieri, James E. Elder, Joseph L. Demer, Alcy Torres, Elza Rachid, Christiane Al-Haddad, Rose-Mary Boustany, David A. Mackey, Angela F. Brady, María Fenollar-Cortés, Melanie Fradin, Tjitske Kleefstra, George W. Padberg, Salmo Raskin, Mario Teruo Sato, Stuart H. Orkin, Stephen C. J. Parker, Tessa A. Hadlock, Lisenka E. L. M. Vissers, Hans van Bokhoven, Ethylin Wang Jabs, Francis S. Collins, Len A. Pennacchio, Irini Manoli, & Elizabeth C. Engle

Nature Genetics 

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This research was funded by the Moebius Syndrome Foundation.

 

Hair hides a woman's face

PSYCHOLOGY

2023

Disclosing the obvious: Psychosocial implications of (not) explaining facial differences

Kathleen R. Bogart, Brooke A. Bryson, Diana Harcourt

Body Image, Volume 46, September 2023, Pages 91-102

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The following article summarizes the journal article.

Disclosing the Obvious: Explaining Facial Differences

This research was funded by the Moebius Syndrome Foundation.

 

An elephant

PSYCHOLOGY

2022

“The Elephant in the Room”: Disclosing Facial Differences

Bogart, K. R., Bryson, B. A., Plackowski, E. F., and Sharratt, N. D.

Stigma and Health

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The following two articles are summaries of the journal article, written in a more user-friendly manner.

The Elephant in the Room: Explaining Facial Difference (Part 1)

Explaining Facial Difference: To Disclose or Not Disclose (Part 2)

This research was funded in part by the Moebius Syndrome Foundation.

 

Two children, a boy and girl, stand with their backs to the camera, looking at the ocean. The girl wears sunglasses

PEDIATRICS

2022

A Comparison of The Socialization of Children with Moebius Syndrome: The Effects of Access to Treatments

Greatness Adewumi

Journal of Novel Physiotherapies

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GENERAL

2022

Degenerate pathway for processing smile and other emotional expressions in congenital facial palsy: an hdEEG investigation

Paola Sessa, Arianna Schiano Lomoriello, Gian Marco Duma, Giovanni Mento, Elisa De Stefani, and Pier Francesco Ferrari

Philosophical Transactions B

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A road winds through the Italian Countryside

GENERAL

2021

The epidemiology of Moebius syndrome in Italy

Arturo Carta, Stefania Favilla, Giacomo Calzetti, Maria Cristina Casalini, Pier Francesco Ferrari, Bernardo Bianchi, Maria Beatrice Simonelli, Roberta Farci, Stefano Gandolf, and Paolo Mora

Orphanet Journal of Rare Diseases

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Two surgeons perform surgery

PEDIATRICS/ORTHOPEDICS

2021

Surgical Treatment of Clubfoot in Children with Moebius Syndrome

Maurizio De Pellegrin, Lorenzo Marcucci, Lorenzo Brogioni, and Giovanni Prati

Children

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A patient waits in a surgical gown on a hospital bed, holding a surgical hair net. Only the hands and knees are shown. The hands rest on the lap holding the hair net

NEUROLOGY/PLASTICS

2021

A New Neurorehabilitative Postsurgery Intervention for Facial Palsy Based on Smile Observation and Hand-Mouth Motor Synergies

Elisa De Stefani, Anna Barbot, Chiara Bertolini, Mauro Belluardo, Gioacchino Garofalo, Nicola Bruno, Bernardo Bianchi, Andrea Ferri, and Pier Francesco Ferrari

Hindawi Neural Plasticity

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A little boy stands with back to the camera. He is looking at a map.

PEDIATRICS/PSYCHOLOGY

2020

A Systematic Review of the Psychosocial Adjustment of Children and Adolescents with Facial Palsy: The Impact of Moebius Syndrome

Matthew Hotton, Esme Huggons, Claire Hamlet, Kathleen Bogart, David Johnson, Jonathan H. Norris, Sarah Kilcoyne, and Louise Dalton

International Journal of Environmental Research and Public Health

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An elderly person wrinkles and squints their closed eye

NEUROSCIENCE

2020

Efficient recognition of facial expressions does not require motor simulation

Gilles Vannuscorps, Michael Andres, and Alfonso Caramazza

eLife 9:e54687

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A nueron in pink lighting

GENERAL

2019

An Overview of Moebius Syndrome: Diagnosis, Supportive Treatment, and Valuable Community Resources

Bryn Webb, M.D. and Vicki McCarrell

Rare Neurological Disease Special Report supplement for Neurology Reviews 

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Emojis with various facial expressions

GENETICS

2019

Congenital facial palsy and emotion processing: The case of Moebius syndrome

Elisa De Stefani, Ylenia Nicolini, Mauro Belluardo, and Pier Francesco Ferrari

Genes, Brain, and Behavior

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Many test tubes sit in a row; a pipette draws out a pink liquid

GENETICS

2017

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, Jessica Cannavino, Matthew F. Rose, Nicole M. Gilette, Pietro Artoni, Nara Lygia de Macena Sobreira, Wai-Man Chan, Bryn D. Webb, Caroline D. Robson, Long Cheng, Carol Van Ryzin, Andres Ramirez-Martinez, Payam Mohassel, Mark Leppert, Mary Beth Scholand, Christopher Grunseich, Carlos R. Ferreira, Tyler Hartman, Ian M. Hayes, Tim Morgan, David M. Markie, Michela Fagiolini, Amy Swift, Peter S. Chines, Carlos E. Speck-Martins, Francis S. Collins, Ethylin Wang Jabs, Carsten G. Bönnemann, Eric N. Olson, Moebius Syndrome Research Consortium, John C. Carey, Stephen P. Robertson, Irini Manoli & Elizabeth C. Engle. 

Nature Communications, Volume 8, Article number: 16077 (2017)

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A white gloved hand takes a swab out of a test tube

GENETICS

2017

Identification of STAC3 variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome

Aida Telegrafi, Bryn D. Webb, Sarah M. Robbins, Carlos E. Speck‐Martins, David FitzPatrick, Leah Fleming, Richard Redett, Andreas Dufke, Gunnar Houge, Jeske J. T. van Harssel, Alain Verloes, Angela Robles, Irini Manoli, Elizabeth C. Engle, Moebius Syndrome Research Consortium, Ethylin W. Jabs, David Valle, John Carey, Julie E. Hoover‐Fong, and Nara L. M. Sobreira

American Journal of Medical Genetics Part A Volume 173, Issue 10.

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PEDIATRICS

2017

Advances in paediatrics in 2016: current practices and challenges in allergy, autoimmune diseases, cardiology, endocrinology, gastroenterology, infectious diseases, neonatology, nephrology, neurology, nutrition, pulmonology. 

Carolo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Silvia Montella, and Sergio Bernasconi 

Italian Journal of Pediatrics September 16, 2017;43(1):80.

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A group of surgeons perform surgery

NEUROLOGY/PLASTICS

2017

A proposal for new neurorehabilitative intervention on Moebius Syndrome patients after ‘smile surgery’. Proof of concept based on mirror neuron system properties and hand-mouth synergistic activity

Pier Francesco Ferrari, Anna Barbot, Bernardo Bianchi, Andrea Ferri, Gioacchino Garofalo, Nicola Bruno, Gino Coudéa, Chiara Bertolini, Martina Ardizzi, Ylenia Nicolini, Mauro Belluardo, and Elisa De Stefani
 
Neuroscience and Biobehavioral Reviews
 
A close-up of an eyeball

NEUROLOGY

2014

Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.

Janet C. Rucker, Bryn D. Webb, Tamiesha Frempong, Harald Gaspar, Thomas P. Naidich, and Ethylin Wang Jabs.

Brain

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GENERAL

2014

Mirror Movements Identified in Patients with Moebius Syndrome

Bryn D. Webb, Tamiesha Frempong, Thomas P. Naidich, Harald Gaspar, Ethylin Wang Jabs, and Janet C. Rucker

Tremor and Other Hyperkinetic Movements, July 22, 2014

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Brown eggs in a carton, with different emotional expressions drawn in black marker

PSYCHOLOGY

2014

Communicating without the face: Holistic perception of emotions of people with facial paralysis

Kathleen Bogart, Linda Tickle-Degnen, and Nalini Ambady

Basic and Applied Social Psychology, 36 (4), 309-320.

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Two teenagers sit on the side of the wall, only their dangling feet are shown

PSYCHOLOGY

2014

“People are all about appearances”: A focus group of teenagers with Moebius Syndrome.

Kathleen R. Bogart

Journal of Health Psychology

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GENETICS

2014

Diagnostic distinctions and genetic analysis of patients diagnosed with Moebius 2 syndrome

Sarah MacKinnon, MSc, OC(C); Darren T. Oystreck, MMedSci, OC(C); Caroline Andrews, MS4; Wai-Man Chan, MS4; David G. Hunter, M.D., Ph.D.; and Elizabeth C. Engle, M.D.

Ophthalmology, 2014 Jul;121(7):1461-8.

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White notecards sit on a white marble background

PSYCHOLOGY

2012

Social interaction experiences of adults with Moebius syndrome: A focus group

Kathleen R. Bogart, Linda Tickle-Degnen, and Matthew S. Joffe 

Journal of Health Psychology, 17(8), 1212-1222

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GENETICS

2012

HOXB1 Founder Mutation in Humans Recapitulates the Phenotype of Hoxb1/Mice

Bryn D. Webb, Sherin Shaaban, Harald Gaspar, Luis F. Cunha, Christian R. Schubert, Ke Hao, Caroline D. Robson, Wai-Man Chan, Caroline Andrews, Sarah MacKinnon, Darren T. Oystreck, David G. Hunter, Anthony J. Iacovelli, Xiaoqian Ye, Anne Camminady, Elizabeth C. Engle, and Ethylin Wang Jabs.

The American Journal of Human Genetics 91, 171–179, July 13, 2012.

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A mother holds a baby, who holds the hand of another adult

GENERAL

2008

The Faces of Moebius Syndrome: Recognition and Anticipatory Guidance

Anne Bienvenu Brossard and June G. Borazjani

MCN, The American Journal of Maternal/Child Nursing 33(5):p 272-278, September 2008.

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A desk lamp shines on an open notebook on a desk, giving it a mysterious glow

GENERAL

2007

The Mystery of the Missing Smile

Greg Miller

Science Vol. 316 no. 5826 pp. 826-827, May 11, 2007

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