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Síndrome Moebius
ORPHA:570CID-10 · Q87.0CID-11 · LD2F.1YOMIM 157900DOENÇA RARA

A síndrome de Moebius é um distúrbio congênito de desinervação craniana muito raro, caracterizado por paralisia facial completa ou incompleta em associação com paralisia bilateral do nervo abducente, causando comprometimento da abdução ocular. A síndrome também inclui várias outras anomalias congênitas.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A síndrome de Moebius é um distúrbio congênito de desinervação craniana muito raro, caracterizado por paralisia facial completa ou incompleta em associação com paralisia bilateral do nervo abducente, causando comprometimento da abdução ocular. A síndrome também inclui várias outras anomalias congênitas.

Publicações científicas
373 artigos
Último publicado: 2026 Apr 8

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.3
Worldwide
Casos conhecidos
300
pacientes catalogados
Início
Antenatal
+ neonatal
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q87.0
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🦴
Ossos e articulações
13 sintomas
😀
Face
13 sintomas
🧠
Neurológico
9 sintomas
👁️
Olhos
5 sintomas
💪
Músculos
4 sintomas
🫃
Digestivo
2 sintomas

+ 41 sintomas em outras categorias

Características mais comuns

100%prev.
Punho cerrado
Frequência: 20/20
90%prev.
Oftalmoplegia
Muito frequente (99-80%)
90%prev.
Boca aberta
Muito frequente (99-80%)
90%prev.
Anormalidade da voz
Muito frequente (99-80%)
90%prev.
Paralisia de nervo craniano
Muito frequente (99-80%)
90%prev.
Fácies em máscara
Muito frequente (99-80%)
93sintomas
Muito frequente (10)
Frequente (11)
Ocasional (26)
Sem dados (46)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 93 características clínicas mais associadas, ordenadas por frequência.

Punho cerradoHand clenching
Frequência: 20/20100%
OftalmoplegiaOphthalmoplegia
Muito frequente (99-80%)90%
Boca abertaOpen mouth
Muito frequente (99-80%)90%
Anormalidade da vozAbnormality of the voice
Muito frequente (99-80%)90%
Paralisia de nervo cranianoCranial nerve paralysis
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico373PubMed
Últimos 10 anos147publicações
Pico202420 papers
Linha do tempo
2026Hoje · 2026🧪 2002Primeiro ensaio clínico📈 2024Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.

PLXND1Plexin-D1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Cell surface receptor for SEMA4A and for class 3 semaphorins, such as SEMA3A, SEMA3C and SEMA3E. Plays an important role in cell-cell signaling, and in regulating the migration of a wide spectrum of cell types. Regulates the migration of thymocytes in the medulla. Regulates endothelial cell migration. Plays an important role in ensuring the specificity of synapse formation. Required for normal development of the heart and vasculature (By similarity). Mediates anti-angiogenic signaling in respons

LOCALIZAÇÃO

Cell membraneCell projection, lamellipodium membrane

VIAS BIOLÓGICAS (3)
NOTCH3 Intracellular Domain Regulates TranscriptionOther semaphorin interactionsRND2 GTPase cycle
MECANISMO DE DOENÇA

Congenital heart defects, multiple types, 9

An autosomal recessive disorder characterized by congenital developmental abnormalities involving structures of the heart. CHTD9 features include common arterial trunk, tetralogy of Fallot, interrupted aortic arch, right aortic arch, ventricular hypoplasia, and hypoplastic left heart, as well as other vascular and valvular anomalies.

EXPRESSÃO TECIDUAL(Ubíquo)
Pulmão
106.9 TPM
Tecido adiposo
104.0 TPM
Nervo tibial
94.8 TPM
Cervix Endocervix
89.0 TPM
Adipose Visceral Omentum
88.6 TPM
OUTRAS DOENÇAS (3)
congenital heart defects, multiple types, 9Mobius syndromepersistent truncus arteriosus
HGNC:9107UniProt:Q9Y4D7
REV3LDNA polymerase zeta catalytic subunitDisease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

Catalytic subunit of the DNA polymerase zeta complex, an error-prone polymerase specialized in translesion DNA synthesis (TLS). Lacks an intrinsic 3'-5' exonuclease activity and thus has no proofreading function

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (3)
Translesion synthesis by POLKTranslesion synthesis by REV1Translesion synthesis by POLI
EXPRESSÃO TECIDUAL(Ubíquo)
Útero
46.6 TPM
Cervix Endocervix
40.3 TPM
Fibroblastos
40.0 TPM
Cervix Ectocervix
36.1 TPM
Cerebelo
33.0 TPM
OUTRAS DOENÇAS (1)
Mobius syndrome
HGNC:9968UniProt:O60673

Variantes genéticas (ClinVar)

47 variantes patogênicas registradas no ClinVar.

🧬 PLXND1: NM_015103.3(PLXND1):c.5387C>T (p.Ser1796Leu) ()
🧬 PLXND1: NM_015103.3(PLXND1):c.5440G>A (p.Gly1814Ser) ()
🧬 PLXND1: NM_015103.3(PLXND1):c.614G>A (p.Ser205Asn) ()
🧬 PLXND1: NM_015103.3(PLXND1):c.1466C>T (p.Thr489Met) ()
🧬 PLXND1: NM_015103.3(PLXND1):c.880_881del (p.Gln294fs) ()
Ver todas no ClinVar

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome Moebius

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

Nenhum ensaio clínico registrado para esta condição.

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Publicações mais relevantes

Timeline de publicações
146 papers (10 anos)
#1

Update on Congenital Cranial Dysinnervation Disorders (CCDDs).

International ophthalmology clinics2026 Apr 01

Congenital cranial dysinnervation disorders (CCDDs) are a group of rare, nonprogressive conditions characterized by abnormal development of the cranial motor nerves and variable ocular motility deficits, ptosis, incomitant strabismus, and facial palsy. Advances in genetics and neuroimaging have revealed that these disorders result from defects in neuronal differentiation or axon guidance of the cranial motor neurons. Duane retraction syndrome, the most common CCDD, results from the absence of the abducens nerve and innervation of the lateral rectus by oculomotor nerve axons; causative genes include CHN1, MAFB, HOXA1, SALL4, and EBF3, although most cases do not have a genetic diagnosis. Congenital fibrosis of the extraocular muscles (CFEOM), results from variants in KIF21A, PHOX2A, TUBB3, or other tubulin genes, and affects the oculomotor and trochlear nerves. Horizontal gaze palsy with progressive scoliosis (HGPPS), caused by ROBO3 loss of function, arises from failure of axonal midline crossing in the brainstem. Moebius syndrome, defined by abducens and facial nerve palsies, has no identified genetic cause and may result from non-Mendelian causes. Additional CCDDs with atypical or syndromic presentations are linked to COL25A1, ECEL1, and ACKR3, although many do not have a genetic explanation. The expanding list of CCDD-associated genes highlights shared developmental pathways, including neuronal differentiation, axon guidance, and microtubule dynamics. Improved genetic diagnosis informs prognosis and multidisciplinary management. This review synthesizes current understanding of CCDDs, emphasizing the shift from phenotypic classification to molecular subtyping, and underscores the importance of ongoing research to resolve genetically unsolved cases and refine diagnostic and therapeutic strategies.

#2

Rapid Eye Movement (REM) Sleep Behaviour Disorder in Moebius Syndrome: A Rare Pediatric Case.

Cureus2026 Jan

Moebius syndrome is a rare, non-progressive congenital disorder, most commonly characterized by impairment of the abducens (VI) and facial (VII) cranial nerves, resulting in facial palsy and limited ocular abduction. A broad spectrum of associated clinical manifestations includes craniofacial abnormalities, limb malformations, and neuromotor developmental delay. Sleep disorders are frequently reported in these patients, most often related to sleep-disordered breathing. In contrast, rapid eye movement (REM) sleep behavior disorder (RBD) is exceptionally rare, both in pediatric patients and in association with this syndrome. We report the case of a 13-year-old male diagnosed with Moebius syndrome in the neonatal period, who developed recurrent episodes of nocturnal agitation, vocalizations, and dream enactment behaviors. Polysomnography demonstrated structural alterations of REM sleep with reduced muscle atonia and abnormal motor activity, findings consistent with RBD. Despite the implementation of sleep hygiene measures and pharmacological therapy, clinical response was limited. This case underscores the importance of actively investigating sleep disturbances in Moebius syndrome, not only to address the more common sleep-related breathing disorders but also to recognize rare conditions, such as RBD, which may significantly impact quality of life. Given the scarcity of evidence on pediatric RBD, particularly in association with congenital neurological syndromes, further research is needed to improve diagnostic and therapeutic strategies.

#3

[Moebius syndrome after maternal misoprostol use].

Nederlands tijdschrift voor geneeskunde2026 Jan 06

This case report describes a newborn with clinical and radiological features compatible with Moebius syndrome following first-trimester maternal use of misoprostol intended for medical abortion. Despite early vaginal bleeding, the pregnancy continued and the parents opted to proceed. Prenatal ultrasound showed bilateral clubfeet, and postnatal examination revealed cranial nerve dysfunction, hypotonia, and feeding difficulties. An MRI of the cerebrum demonstrated hypoplasia of the pons, thalamic fusion, and absence of the nervus abducens and nervus facialis, findings that support a diagnosis of Moebius syndrome. The report highlights the association between early gestational misoprostol exposure and congenital anomalies, which may not be detectable via prenatal imaging. Counseling and multidisciplinary follow-up are essential. Although the absolute risk is low, clinicians should remain aware of the teratogenic risks after misoprostol exposure.

#4

Craniofacial surgery needs in the Moebius syndrome population.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS2026 Feb
#5

Sagittal craniosynostosis with Moebius syndrome; case illustration: first case in the literatüre.

BMC pediatrics2025 Oct 31

Our aim in this article is to contribute to the clinical findings of Moebius syndrome with the association of synostosis published for the first time. In 2023, the Pediatric Neurosurgery Department operated sagittal synostosis case with Moebius syndrome was retrieved from the neurosurgery archive with literatüre review. A 6-month-old girl who could not close her eyes and mouth after birth was followed up in another hospital with the diagnosis of Moebius Syndrome and was referred to us because of cranial deformity. Moebius syndrome is a syndrome whose cause and clinical framework still need to be fully clarified and is being updated with studies. For this reason, it is essential to recognize the clinical findings seen in patients well, to direct them to genetic research if necessary, and to pay attention to new manifestations that may be added in this context in terms of scientific transfer.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC272 artigos no totalmostrando 146

2026

Update on Congenital Cranial Dysinnervation Disorders (CCDDs).

International ophthalmology clinics
2026

Rapid Eye Movement (REM) Sleep Behaviour Disorder in Moebius Syndrome: A Rare Pediatric Case.

Cureus
2026

[Moebius syndrome after maternal misoprostol use].

Nederlands tijdschrift voor geneeskunde
2025

A Rare Triad of Congenital Facial, Abducens, and Hypoglossal Nerve Palsies: A Case Report.

Cureus
2025

Kissing Cochlea: An Extreme Inner Ear Malformation, Novel Surgical Approach via Cystic Vestibule.

The Laryngoscope
2025

Anesthetic Challenges of Caring for an Adult With Moebius Syndrome: A Case Report.

Case reports in anesthesiology
2026

Craniofacial surgery needs in the Moebius syndrome population.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

Sagittal craniosynostosis with Moebius syndrome; case illustration: first case in the literatüre.

BMC pediatrics
2025

Modified Nishida's procedure combined with medial rectus recession in a case of Moebius syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2025

Bronchial stenosis in an 8-year-old with Moebius syndrome: A case report.

International journal of surgery case reports
2025

Quality of Life in Children and Adolescents With Facial Palsy: A Scoping Review.

The Journal of craniofacial surgery
2025

Evaluating Dynamic Smile Outcomes of Free Gracilis Muscle Transfer in Pediatric Facial Palsy Using Image-Based Analysis.

Journal of reconstructive microsurgery
2025

Systematic phenotype and genotype characterization of Moebius syndrome.

Genetics in medicine open
2025

Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2025

Transformative Dental Care in Pediatric Moebius Syndrome: Bridging Oral Health and Systemic Management During Prolonged Hospitalization.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2025

Facial reanimation in Moebius syndrome - 25-Year experience in treating bilateral facial paralysis.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2025

The Etiology of Moebius Syndrome-Making the Case for Animal Models.

International journal of molecular sciences
2025

Moebius-plus: a severe congenital multiple cranial neuropathy syndrome.

BMJ case reports
2025

Moebius Syndrome associated with syringomyelia: a case report.

Einstein (Sao Paulo, Brazil)
2025

Facial Reanimation in Moebius Syndrome Using Bilateral Free Gracilis Transfer: 1-Stage versus 2-Stage Procedures.

Plastic and reconstructive surgery
2025

Sleep health of adults and children with Moebius syndrome.

Research in developmental disabilities
2025

Moebius syndrome and hypopituitarism: a case of multiple pituitary hormone deficiency and revision of the literature.

Journal of pediatric endocrinology &amp; metabolism : JPEM
2025

Orthodromic Reshaping Temporalis Tendon Transfer for Aesthetic Facial Reanimation in Adults with Moebius Syndrome and Bilateral Facial Paralysis: Technical Insights and Indications.

Facial plastic surgery &amp; aesthetic medicine
2024

Hypersomnia and cataplexy in Moebius syndrome.

Sleep medicine
2024

Through their eyes: Navigating life with limited eyelid closure in patients with Moebius syndrome.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2024

Job discrimination against applicants with the Moebius syndrome.

Acta psychologica
2024

Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.

Genes
2024

Postoperative multimodal rehabilitation for spontaneous smile restoration in severe Moebius syndrome: A case report and a short literature review.

SAGE open medical case reports
2024

Beyond the Eyes: Clinico-Radiological Correlation of Bilateral Complete Horizontal Gaze Palsy in Moebius Syndrome.

Cureus
2024

Multidisciplinary Care for Moebius Syndrome and Related Disorders: Building a Management Protocol.

Journal of clinical medicine
2024

Prevalence of congenital anomalies and prenatal diagnosis by birth institution (public vs. non-public): indicators of inequality in access to elective termination of pregnancy for fetal anomalies.

Journal of community genetics
2024

Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness.

International journal of environmental research and public health
2024

Commentary on: "A New Technique in Facial Reanimation Surgery for Moebius Syndrome" by Simmons et al.

Facial plastic surgery &amp; aesthetic medicine
2024

A New Technique in Facial Reanimation Surgery for Moebius Syndrome.

Facial plastic surgery &amp; aesthetic medicine
2024

On the Role of Sensorimotor Experience in Facial Expression Perception.

Journal of cognitive neuroscience
2024

Treatment Approaches for Altered Facial Expression: A Systematic Review in Facioscapulohumeral Muscular Dystrophy and Other Neurological Diseases.

Journal of neuromuscular diseases
2024

Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome.

Frontiers in genetics
2024

Oral findings and comprehensive dental management of Moebius syndrome: a systematic review.

BMC oral health
2024

Physiopathologic Bases of Moebius Syndrome: Combining Genetic, Vascular, and Teratogenic Theories.

Pediatric neurology
2023

Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.

International journal of molecular sciences
2023

Moebius Syndrome: An Updated Review of Literature.

Child neurology open
2023

Inability to move one's face dampens facial expression perception.

Cortex; a journal devoted to the study of the nervous system and behavior
2023

Impact of Social Determinants of Health in the Care of Moebius Syndrome: A Case Report.

Cureus
2024

Psychosocial functioning in patients with altered facial expression: a scoping review in five neurological diseases.

Disability and rehabilitation
2024

Moebius syndrome and gastroschisis-The second case of a rare association.

American journal of medical genetics. Part A
2024

Sensitivity to basic emotional expressions and the emotion perception space in the absence of facial mimicry: The case of individuals with congenital facial palsy.

Emotion (Washington, D.C.)
2023

Monozygotic twins discordant for a congenital cranial dysinnervation disorder with features of Moebius syndrome.

American journal of medical genetics. Part A
2023

Diagnosis and Dental Management of a Child with Moebius Syndrome: A Case Report.

International journal of clinical pediatric dentistry
2023

Moebius Syndrome: A Case Report on an Uncommon Congenital Syndrome.

Cureus
2024

The challenging management of Moebius syndrome using orthodontic camouflage: A case report.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2023

Unusual case of Trigeminal Neuralgia Associated with Poland -Moebius Syndrome.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2023

Testing EEG functional connectivity between sensorimotor and face processing visual regions in individuals with congenital facial palsy.

Frontiers in systems neuroscience
2023

Moebius Syndrome: What We Know So Far.

Cureus
2023

Congenital facial nerve palsy: Single center study.

Frontiers in pediatrics
2023

Irregular sleep-wake rhythm disorder Masquerading as hypersomnia in Moebius syndrome.

Sleep medicine
2022

Poland-Möbius syndrome: a case report implicating a novel mutation of the PLXND1 gene and literature review.

BMC pediatrics
2022

Simultaneous Bilateral Proximal Femur Implant Failure: A Case Report.

Cureus
2022

Moebius syndrome-Case report.

Clinical case reports
2022

A Missense Mutation in LMX1A in a Patient With Moebius Syndrome: A Case Report.

Cureus
2022

Acute Respiratory Distress in a Pediatric Patient With Prader-Willi and Moebius Syndromes.

Cureus
2022

Difficult intubation and postoperative aspiration pneumonia associated with Moebius syndrome: a case report.

BMC anesthesiology
2022

Associated anomalies in cases with achondroplasia.

European journal of medical genetics
2022

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

Philosophical transactions of the Royal Society of London. Series B, Biological sciences
2022

Orthodontic treatment in a patient with Moebius syndrome: A case report.

Korean journal of orthodontics
2022

Zygomatic Muscle Neurotization with Nerve Grafts and End-to-Side Neurorrhaphies: A New Technique for Facial Palsy.

Plastic and reconstructive surgery. Global open
2022

Post-surgery Rehabilitative Intervention Based on Imitation Therapy and Mouth-Hand Motor Synergies Provides Better Outcomes in Smile Production in Children and Adults With Long Term Facial Paralysis.

Frontiers in neurology
2022

Facial Expression Time Processing in Typical Development and in Patients with Congenital Facial Palsy.

Brain sciences
2022

Extracellular vesicles-derived microRNAs expression as biomarkers for neurological radiation injury: Risk assessment for space exploration.

Life sciences in space research
2021

Facial paralysis, etiology and surgical treatment in a tertiary care center in plastic and reconstructive surgery in Mexico.

Cirugia y cirujanos
2022

Impact of Adding Augmented Superior Rectus Transpositions to Medial Rectus Muscle Recessions When Treating Esotropic Moebius Syndrome.

American journal of ophthalmology
2021

Splenogonadal fusion associated with Moebius and Poland syndromes: first case reported.

Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica
2021

Dental management of a patient with Moebius syndrome: A case report.

World journal of clinical cases
2022

Neurogenic bladder as a lurking complication in Moebius syndrome.

Brain &amp; development
2021

Surgical Treatment of Clubfoot in Children with Moebius Syndrome.

Children (Basel, Switzerland)
2021

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

Neural plasticity
2021

The epidemiology of Moebius syndrome in Italy.

Orphanet journal of rare diseases
2022

Prevalence of Hand Malformations in Patients With Moebius Syndrome and Their Management.

Hand (New York, N.Y.)
2021

Workhorse Free Functional Muscle Transfer Techniques for Smile Reanimation in Children with Congenital Facial Palsy: Case Report and Systematic Review of the Literature.

Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS
2021

Cephalometric Analysis of the Craniofacial Morphology in Patients With Moebius Syndrome.

The Journal of craniofacial surgery
2020

Management of a case of anticipated difficult airway in a patient with Moebius syndrome.

Indian journal of anaesthesia
2021

Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant.

Journal of molecular medicine (Berlin, Germany)
2021

Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.

Muscle &amp; nerve
2020

Long-term results of facial animation surgery in patients with Moebius syndrome.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2020

Moebius Syndrome: A Rare Entity or a Missed Diagnosis?

Journal of pediatric neurosciences
2020

Adjustable graded augmentation of superior rectus transposition for treatment of abducens nerve palsy and Duane syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2021

Oromandibular Limb Hypogenesis Syndrome: Overlap of Moebius and Ankyloglossia Superior With Severe Limb Defects.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
2020

Moebius syndrome: Craniofacial clinical manifestations and their association with prenatal exposure to misoprostol.

Laryngoscope investigative otolaryngology
2020

Diagnosis and treatment of speech disorders in children with Moebius syndrome.

International journal of pediatric otorhinolaryngology
2020

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

International journal of environmental research and public health
2020

Sleep-related breathing disorders associated with the characteristics of underlying congenital rare diseases of Moebius syndrome and Poland syndrome.

Respirology case reports
2020

Brain phenotyping in Moebius syndrome and other congenital facial weakness disorders by diffusion MRI morphometry.

Brain communications
2020

Electromyographic evaluation of the facial and motor donor nerves before facial reanimation surgery in Moebius syndrome.

Cirugia y cirujanos
2020

Orofacial motor dysfunction in Moebius syndrome.

Developmental medicine and child neurology
2020

Ankyloglossia Superior Associated With Moebius Syndrome: A Case Report.

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons
2019

Children with facial paralysis due to Moebius syndrome exhibit reduced autonomic modulation during emotion processing.

Journal of neurodevelopmental disorders
2020

Difficult Airway Identification and Management in Patients With Moebius Syndrome.

The Journal of craniofacial surgery
2019

Moebius syndrome: The challenge of dental management.

European journal of paediatric dentistry
2019

Congenital unilateral facial palsy revealing a facial nerve agenesis: a case report and review of the literature.

BJR case reports
2019

Autonomic Responses to Emotional Stimuli in Children Affected by Facial Palsy: The Case of Moebius Syndrome.

Neural plasticity
2019

Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome.

Human mutation
2019

Neuroimaging Findings in Moebius Sequence.

AJNR. American journal of neuroradiology
2019

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

Genes, brain, and behavior
2019

[Airway management in the neonate with Moebius syndrome].

Anales de pediatria
2019

Will the real Moebius syndrome please stand up? A systematic review of the literature and statistical cluster analysis of clinical features.

American journal of medical genetics. Part A
2019

Psychological adjustment of young subjects with Möbius sequence and their primary caregivers' strain and life satisfaction: First longitudinal data.

Research in developmental disabilities
2018

Evaluation of Moebius syndrome with hand manifestations.

Acta orthopaedica Belgica
2018

Ophthalmoplegia and Congenital Cranial Dysinnervation Disorders.

Journal of binocular vision and ocular motility
2018

Magnetic resonance imaging of developmental facial paresis: a spectrum of complex anomalies.

Neuroradiology
2018

Moebius Syndrome with Hypoglossal Palsy, Syndactyly, Brachydactyly, and Anisometropic Amblyopia.

Cureus
2018

Brainstem dysgenesis: beyond Moebius syndrome.

Revista de neurologia
2018

Orthodontics and Moebius syndrome: an observational study.

Minerva stomatologica
2018

Pathogenesis of cranial neuropathies in Moebius syndrome: Electrodiagnostic orofacial studies.

Muscle &amp; nerve
2018

An interesting case of systemic lupus erythematosus in a patient with Moebius syndrome.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2018

TUBB3 E410K syndrome with osteoporosis and cough syncope in a patient previously diagnosed with atypical Moebius syndrome.

Brain &amp; development
2017

Morphological changes in support mechanism of superficial face layers in Moebius syndrome.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie
2017

[Evidence level and grade of recommendation of the Ponseti method for arthrogryposis-related syndromic talipes equinovarus and Moebius syndrome: a systematic review].

Acta ortopedica mexicana
2018

Prosthodontic Management of a Patient with Moebius Syndrome: A Clinical Report.

Journal of prosthodontics : official journal of the American College of Prosthodontists
2017

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

Italian journal of pediatrics
2017

A Novel Loss-of-Function Mutation in HOXB1 Associated with Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family.

Molecular syndromology
2017

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

American journal of medical genetics. Part A
2017

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

Nature communications
2016

Augmented superior rectus transposition surgery for vertical strabismus in moebius syndrome.

Nepalese journal of ophthalmology : a biannual peer-reviewed academic journal of the Nepal Ophthalmic Society : NEPJOPH
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.

Neuroscience and biobehavioral reviews
2017

Pre- and Postsurgical Orthodontics in Patients with Moebius Syndrome.

Case reports in dentistry
2017

"Rare place where I feel normal": Perceptions of a social support conference among parents of and people with Moebius syndrome.

Research in developmental disabilities
2017

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.

Cold Spring Harbor molecular case studies
2017

Three Cases of Exotropic Moebius Syndrome.

Journal of pediatric ophthalmology and strabismus
2016

Enhancing surgical outcomes: The effects of speech therapy on a school-aged girl with Moebius Syndrome.

International journal of pediatric otorhinolaryngology
2016

MOEBIUS SYNDROME: CHALLENGES OF AIRWAY MANAGEMENT.

Acta clinica Croatica
2016

Moebius syndrome: clinical features, diagnosis, management and early intervention.

Italian journal of pediatrics
2015

Ophthalmic profile and systemic features of pediatric facial nerve palsy.

Eye science
2017

[Electromyographic assessment of the temporalis muscle prior to a lengthening myoplasty in patients with Moebius syndrome].

Annales de chirurgie plastique et esthetique
2016

Salivary parameters and oral health in the Moebius syndrome.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
2016

Postobstructive Pulmonary Edema following Tonsillectomy/Adenoidectomy in a 2-Year-Old with Poland-Moebius Syndrome.

Case reports in otolaryngology
2016

Quality of life and adjustment in children and adolescents with Moebius syndrome: Evidence for specific impairments in social functioning.

Research in developmental disabilities
2016

Caries Experience in Individuals with Moebius Syndrome.

Pediatric dentistry
2016

Managing the child with a diagnosis of Moebius syndrome: more than meets the eye.

Archives of disease in childhood
2015

Considerations on the etiology of congenital Brown syndrome.

Current opinion in ophthalmology
2015

De novo mutations in PLXND1 and REV3L cause Möbius syndrome.

Nature communications
2015

A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations.

European journal of medical genetics
2015

Atraumatic restorative technique: case report on dental management of a patient with Moebius syndrome.

Australian dental journal
2015

Congenital cranial dysinnervation disorder in a boy with congenital mirror movements.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2015

[Congenital cranial dysinnervation disorders (CCDD)].

Klinische Monatsblatter fur Augenheilkunde
2015

Unmasking Moebius syndrome.

Nursing
2015

Examining the genetics of congenital facial paralysis--a closer look at Moebius syndrome.

Oral and maxillofacial surgery
2015

Treatment of migration and extrusion of the gold weight eyelid implant with fascia lata sandwich graft technique.

The Journal of craniofacial surgery
Ver todos os 272 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Síndrome Moebius

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Update on Congenital Cranial Dysinnervation Disorders (CCDDs).
    International ophthalmology clinics· 2026· PMID 41870107mais citado
  2. Rapid Eye Movement (REM) Sleep Behaviour Disorder in Moebius Syndrome: A Rare Pediatric Case.
    Cureus· 2026· PMID 41658652mais citado
  3. [Moebius syndrome after maternal misoprostol use].
    Nederlands tijdschrift voor geneeskunde· 2026· PMID 41569079mais citado
  4. Craniofacial surgery needs in the Moebius syndrome population.
    Journal of plastic, reconstructive &amp; aesthetic surgery : JPRAS· 2026· PMID 41275539mais citado
  5. Sagittal craniosynostosis with Moebius syndrome; case illustration: first case in the literat&#xfc;re.
    BMC pediatrics· 2025· PMID 41174533mais citado
  6. Anatomical Variation of Absent Facial Vein: Implications for Facial Reanimation Surgery.
    Head Neck· 2026· PMID 41948882recente
  7. A Rare Triad of Congenital Facial, Abducens, and Hypoglossal Nerve Palsies: A Case Report.
    Cureus· 2025· PMID 41477413recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:570(Orphanet)
  2. OMIM OMIM:157900(OMIM)
  3. MONDO:0008006(MONDO)
  4. GARD:8549(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. Q1418152(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome Moebius
Compêndio · Raras BR

Síndrome Moebius

ORPHA:570 · MONDO:0008006
Prevalência
1-9 / 100 000
Casos
300 casos conhecidos
Herança
Autosomal dominant
CID-10
Q87.0 · Síndromes com malformações congênitas afetando predominantemente o aspecto da face
CID-11
Início
Antenatal, Neonatal
Prevalência
0.3 (Worldwide)
MedGen
UMLS
C0221060
EuropePMC
Wikidata
Wikipedia
Papers 10a
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