ORPHA:45358
Congenital fibrosis of extraocular muscles
Also known as: FEOM
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
711
86.1th percentile
Trials
0
Interventional, condition-specific
Researchers
994
Distinct authors in sample
Gene link
GRHL2, KIF21A, TUBA1A
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndromic disorder with strabismus characterized by non- ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include , peripheral , and skeletal abnormalities, among others.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007614
- MeSH:C580012
- UMLS:C1302995
Additional Mondo synonyms (4)
Congenital Fibrosis of the Extraocular Muscles · congenital fibrosis of the extraocular muscles · fibrosis of extraocular muscles, congenital · fibrosis of extraocular muscles, congenital, type 1
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
Definitive — GRHL2, KIF21A, TUBA1A, TUBB2B
- LiteraturePresent
711 matched papers (333 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 (GRHL2, KIF21A, TUBA1A…).
GenCC classification: Definitive.
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?
711
711 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.
711 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).
333 in the last 10 years · medium confidence · 86.1th percentile (publications denominator)
Phrase hits: 711 · MeSH hits: 0
Who's working on it?
994
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.
- 01Engle EC19 papers · 2026
Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.
Papers in Europe PMC - 02Chan WM10 papers · 2025
FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts.
Papers in Europe PMC - 03Hunter DG10 papers · 2025
Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.
Papers in Europe PMC - 04Whitman MC10 papers · 2026
Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.
Papers in Europe PMC - 05Barry BJ9 papers · 2026
Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Papers in Europe PMC - 06Jurgens JA7 papers · 2025
Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Papers in Europe PMC - 07England EM5 papers · 2025
Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Papers in Europe PMC - 08Manoli I5 papers · 2026
Metabolic Medicine Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
Papers in Europe PMC - 09Robson CD5 papers · 2025
Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Boston, MA.
Papers in Europe PMC - 10Webb BD5 papers · 2026
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
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. 1 observational study 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.
medium 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
1 observational study matches 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.
"Congenital fibrosis of extraocular muscles" OR "Congenital fibrosis of the extraocular muscles" OR "fibrosis of extraocular muscles, congenital" OR "fibrosis of the extraocular muscles, congenital" OR "fibrosis of extraocular muscles, congenital, type 1" OR "fibrosis of the extraocular muscles, congenital, type 1"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital fibrosis of extraocular muscles" OR "Congenital fibrosis of the extraocular muscles" OR "fibrosis of extraocular muscles, congenital" OR "fibrosis of the extraocular muscles, congenital" OR "fibrosis of extraocular muscles, congenital, type 1" OR "fibrosis of the extraocular muscles, congenital, type 1" OR "GRHL2" OR "KIF21A" OR "TUBA1A" OR "TUBB2B" OR "myopathy of extraocular muscle"
Recall-expansion terms: GRHL2, KIF21A, TUBA1A, TUBB2B, myopathy of extraocular muscle
Study-type breakdown: 0 interventional · 1 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: FEOM
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T00:07:57.718Z