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ORPHA:794

Saethre-Chotzen syndrome

medium confidenceDisorder

Also known as: ACS3 · Acrocephalosyndactyly type 3 · SCS

Publications

20,489

97.9th percentile

Trials

0

Interventional, condition-specific

Researchers

1,101

Distinct authors in sample

Gene link

FGFR2, TWIST1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent superior and/or inferior crus, among other less common manifestations.

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 (4)

Saethre Chotzen Syndrome · Saethre-Chotzen syndrome with or without eyelid anomalies · acrocephalosyndactyly type 3 · type III Acrocephalosyndactyly

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — FGFR2, TWIST1

  2. LiteraturePresent

    20,489 matched papers (15,602 in last 10 years) Source

  3. Phenotype characterisedPresent

    109 HPO annotations (e.g. Coronal craniosynostosis; Finger syndactyly; Narrow palate) Source

  4. Animal modelPresent

    8 genotype models (Mus musculus) Source

  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 (FGFR2, TWIST1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

109

Associated phenotypes · MONDO:0007042

  • Coronal craniosynostosis
  • Finger syndactyly
  • Narrow palate
  • Low anterior hairline
  • Strabismus

Showing 5 of 109 — open Monarch for the full list.

Animal models (Monarch / Alliance)

8

Model associations linked to this Mondo ID

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)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

20,489

20,489 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.

20,489 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).

15,602 in the last 10 years · medium confidence · 97.9th percentile (publications denominator)

Phrase hits: 896 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,101

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
    Mathijssen IMJ10 papers · 2026

    From the Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center.

    Papers in Europe PMC
  2. 02
    Chai Y7 papers · 2026

    Center for Craniofacial Molecular Biology, University of Southern California, 2250 Alcazar Street, CSA 103, Los Angeles, CA 90033, USA. Electronic address: ychai@usc.edu.

    Papers in Europe PMC
  3. 03
    Crump JG7 papers · 2024

    Department of Stem Cell Biology and Regenerative Medicine, Keck School of Medicine of University of Southern California, Los Angeles, CA 90033, USA.

    Papers in Europe PMC
  4. 04
    Maxson RE6 papers · 2024

    Department of Biochemistry, Keck School of Medicine, University of Southern California, Los Angeles, United States.

    Papers in Europe PMC
  5. 05
    Choi TM5 papers · 2025

    Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Dutch Craniofacial Center, Erasmus University Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, the Netherlands. t.choi@erasmusmc.nl.

    Papers in Europe PMC
  6. 06
    Farmer DT5 papers · 2024

    Department of Stem Cell Biology and Regenerative Medicine, University of Southern California, Los Angeles, United States.

    Papers in Europe PMC
  7. 07
    Teng CS5 papers · 2024

    Department of Stem Cell Biology and Regenerative Medicine, University of Southern California, Los Angeles, United States.

    Papers in Europe PMC
  8. 08
    Wolvius EB5 papers · 2025

    Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Dutch Craniofacial Center, Erasmus University Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, the Netherlands.

    Papers in Europe PMC
  9. 09
    Ongkosuwito EM4 papers · 2025

    Department of Oral Maxillofacial Surgery, Special Dental Care and Orthodontics, Dutch Craniofacial Center, Erasmus University Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, the Netherlands.

    Papers in Europe PMC
  10. 10
    Yang S4 papers · 2024

    From the Department of Plastic and Reconstructive Surgery and Hand Surgery, Dutch Craniofacial Center.

    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. 2 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.

medium 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

2 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Saethre-Chotzen 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.

("Saethre-Chotzen syndrome" OR "Acrocephalosyndactyly type 3" OR "Saethre Chotzen Syndrome" OR "Saethre-Chotzen syndrome with or without eyelid anomalies" OR "type III Acrocephalosyndactyly") OR ("TWIST1" OR "TWIST1 syndrome" OR "TWIST1-related")

Run this search on Europe PMC

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

"Saethre-Chotzen syndrome" OR "Acrocephalosyndactyly type 3" OR "Saethre Chotzen Syndrome" OR "Saethre-Chotzen syndrome with or without eyelid anomalies" OR "type III Acrocephalosyndactyly"

Study-type breakdown: 0 interventional · 2 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: ACS3; SCS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T15:22:42.105Z