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ORPHA:447974

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome

high confidenceDisorder

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1

7th percentile

Trials

0

Interventional, condition-specific

Researchers

31

Distinct authors in sample

Gene link

MYO18B

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), , , short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — MYO18B

  2. LiteraturePresent

    1 matched papers (1 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 181 for broader category myopathy

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 (MYO18B).

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?

1

1 paper have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

1 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 in the last 10 years · high confidence · 7th percentile (publications denominator)

Phrase hits: 1 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

31

Distinct author names in 1 sampled paper — 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
    Abdelmoneim Elnagheeb M1 paper · 2025

    Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

    Papers in Europe PMC
  2. 02
    Beggs AH1 paper · 2025

    Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, and Department of Pediatrics, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  3. 03
    Bertini E1 paper · 2025

    Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

    Papers in Europe PMC
  4. 04
    Bönnemann CG1 paper · 2025

    Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, National Institute of Neurological Disorders, Bethesda, USA.

    Papers in Europe PMC
  5. 05
    Ceyhan-Birsoy O1 paper · 2025

    Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

    Papers in Europe PMC
  6. 06
    D'Amico A1 paper · 2025

    Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

    Papers in Europe PMC
  7. 07
    Donkervoort S1 paper · 2025

    Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, National Institute of Neurological Disorders, Bethesda, USA.

    Papers in Europe PMC
  8. 08
    Dowling J1 paper · 2025

    Division of Neurology, Program for Genetics and Genome Biology, Hospital for Sick Children, Toronto, Canada.

    Papers in Europe PMC
  9. 09
    Eng L1 paper · 2025

    Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

    Papers in Europe PMC
  10. 10
    Fattori F1 paper · 2025

    Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 181 trials are registered for myopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

high 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.

181 interventional trials matched myopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: myopathy

181

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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 2026-07-26

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.

"Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome" OR "MYO18B"

Recall-expansion terms: MYO18B

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

Parent-category trials query:

"myopathy"

Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T16:34:32.529Z