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ORPHA:570

Moebius syndrome

low confidenceDisorder

Also known as: Möbius syndrome

Publications

11,015

Trials

0

Interventional, condition-specific

Researchers

1,027

Distinct authors in sample

Gene link

LMX1A, PLXND1, REV3L

Strong

Readiness

3/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

3/6 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.

  1. Gene identifiedPresent

    Strong — LMX1A, PLXND1, REV3L

  2. LiteraturePresent

    11,015 matched papers (6,344 in last 10 years) Source

  3. Phenotype characterisedPresent

    108 HPO annotations (e.g. Hypogonadotropic hypogonadism; Movement abnormality of the tongue; Mask-like facies) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

108

Associated phenotypes · MONDO:0008006

  • Hypogonadotropic hypogonadism
  • Movement abnormality of the tongue
  • Mask-like facies
  • Strabismus
  • External ophthalmoplegia

Showing 5 of 108 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

3 associated chemicals. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Cocaine · marker/mechanism
  • Mifepristone · marker/mechanism
  • Misoprostol · marker/mechanism

MyDisease.info · MONDO:0008006

Literature

Is anyone studying this?

11,015

11,015 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

11,015 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

6,344 in the last 10 years · low confidence

Phrase hits: 2,859 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Telich-Tarriba JE6 papers · 2026

    Universidad Nacional Autonoma de Mexico, Mexico City, Mexico.

    Papers in Europe PMC
  2. 02
    Webb 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
  3. 03
    Cardenas-Mejia A5 papers · 2026

    Universidad Nacional Autonoma de Mexico, Mexico City, Mexico.

    Papers in Europe PMC
  4. 04
    Engle EC5 papers · 2026

    Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.

    Papers in Europe PMC
  5. 05
    Jabs 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
  6. 06
    Manoli 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
  7. 07
    Collins 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
  8. 08
    Ferrari PF4 papers · 2022

    Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.

    Papers in Europe PMC
  9. 09
    Griffiths 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
  10. 10
    Maksemous 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (1)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Moebius syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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") OR ("LMX1A" OR "LMX1A syndrome" OR "LMX1A-related" OR "PLXND1" OR "PLXND1 syndrome" OR "PLXND1-related" OR "REV3L" OR "REV3L syndrome" OR "REV3L-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 3 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; 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