ORPHA:570
Moebius syndrome
Also known as: Möbius syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
2,859
Trials
0
Interventional, condition-specific
Researchers
1,027
Distinct authors in sample
Gene link
LMX1A, PLXND1, REV3L
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A very rare cranial dysinnervation disorder characterized by unilateral or bilateral non facial palsy (VII cranial nerve) with impairments of ocular abduction (VI cranial nerve). It can also be associated with other cranial nerves palsies, orofacial anomalies and limb defects.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008006
- MeSH:D020331
- OMIM:157900
- UMLS:C0221060
- NCIT:C84893
Additional Mondo synonyms (7)
MBS · Mobius syndrome · Moebius Syndrome · Moebius sequence · Moebius syndrome, Isolated cases · congenital facial diplegia · oromandibular-limb hypogenesis spectrum
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — LMX1A, PLXND1, REV3L
- LiteraturePresent
2,859 matched papers (1,223 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (LMX1A, PLXND1, REV3L).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
2,859
2,859 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
2,859 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
1,223 in the last 10 years · low confidence
Phrase hits: 2,859 · MeSH hits: 0
Who's working on it?
1,027
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Telich-Tarriba JE6 papers · 2026
Universidad Nacional Autonoma de Mexico, Mexico City, Mexico.
Papers in Europe PMC - 02Webb BD6 papers · 2026
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Papers in Europe PMC - 03Cardenas-Mejia A5 papers · 2026
Universidad Nacional Autonoma de Mexico, Mexico City, Mexico.
Papers in Europe PMC - 04Engle EC5 papers · 2026
Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
Papers in Europe PMC - 05Jabs EW5 papers · 2025
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Papers in Europe PMC - 06Manoli I5 papers · 2026
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Papers in Europe PMC - 07Collins FS4 papers · 2026
Medical Genomics and Metabolic Genetics Branch, Immediate Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.
Papers in Europe PMC - 08Ferrari PF4 papers · 2022
Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.
Papers in Europe PMC - 09Griffiths LR4 papers · 2026
Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology (QUT), Brisbane, QLD 4059, Australia.
Papers in Europe PMC - 10Maksemous N4 papers · 2026
Genomics Research Centre, Centre for Genomics and Personalised Health, School of Biomedical Sciences, Queensland University of Technology (QUT), Brisbane, QLD 4059, Australia.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 3 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
low confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
3 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT03059420·RECRUITING·Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies
Conditions: Congenital Fibrosis of Extraocular Muscles · Duane Retraction Syndrome · Duane Radial Ray Syndrome · Mobius Syndrome·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Moebius syndrome" OR "Möbius syndrome" OR "Mobius syndrome" OR "Moebius sequence" OR "Moebius syndrome, Isolated cases" OR "congenital facial diplegia" OR "oromandibular-limb hypogenesis spectrum"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Moebius syndrome" OR "Möbius syndrome" OR "Mobius syndrome" OR "Moebius sequence" OR "Moebius syndrome, Isolated cases" OR "congenital facial diplegia" OR "oromandibular-limb hypogenesis spectrum" OR "LMX1A" OR "PLXND1" OR "REV3L"
Recall-expansion terms: LMX1A, PLXND1, REV3L
Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MBS
Confidence reasoning
- Preferred label is short or not clearly distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T14:23:26.664Z