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ORPHA:861

Treacher-Collins syndrome

high confidenceDisorder

Also known as: Franceschetti-Klein syndrome · Mandibulofacial dysostosis without limb anomalies

Publications

3,365

90.4th percentile

Trials

0

Interventional, condition-specific

Researchers

1,010

Distinct authors in sample

Gene link

POLR1D, TCOF1

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal.

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.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

Treacher Collins Syndrome · Treacher Collins syndrome · mandibulofacial dysostosis without limb anomalies

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 — POLR1D, TCOF1

  2. LiteraturePresent

    3,365 matched papers (1,883 in last 10 years) Source

  3. Phenotype characterisedPresent

    143 HPO annotations (e.g. Malar flattening; Retrognathia; Hypoplasia of the maxilla) Source

  4. Animal modelPresent

    13 genotype models (Danio rerio, 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 (POLR1D, TCOF1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

143

Associated phenotypes · MONDO:0002457

  • Malar flattening
  • Retrognathia
  • Hypoplasia of the maxilla
  • Micrognathia
  • Downslanted palpebral fissures

Showing 5 of 143 — open Monarch for the full list.

Animal models (Monarch / Alliance)

13

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?

3,365

3,365 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=3967) is 59.

3,365 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).

1,883 in the last 10 years · high confidence · 90.4th percentile (publications denominator)

Phrase hits: 2,417 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,010

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
    Chen Y4 papers · 2026

    Stomatology Hospital, School of Stomatology, Zhejiang University School of Medicine, Zhejiang Provincial Clinical Research Center for Oral Diseases, Zhejiang Key Laboratory of Oral Biomedical, Hangzhou 310000, China.

    Papers in Europe PMC
  2. 02
    Dowgierd K4 papers · 2026

    Head and Neck Surgery Clinic for Children and Young Adults, Department of Clinical Pediatrics, University of Warmia and Mazury, 10-561 Olsztyn, Poland.

    Papers in Europe PMC
  3. 03
    Huang Y4 papers · 2025

    Department of Pediatrics, Sichuan Provincial Women's and Children's Hospital, The Affiliated Women's and Children's Hospital of Chengdu Medical College, No. 290 West Second Street, Shayan Road, Chengdu, Sichuan, 610045, China.

    Papers in Europe PMC
  4. 04
    Li Y4 papers · 2026

    Department of Ultrasound, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.

    Papers in Europe PMC
  5. 05
    Trindade-Suedam IK4 papers · 2025

    Laboratory of Physiology, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, São Paulo, Brazil.

    Papers in Europe PMC
  6. 06
    Bartlett SP3 papers · 2025

    From the Divisions of Plastic, Reconstructive, and Oral Surgery.

    Papers in Europe PMC
  7. 07
    Chen Q3 papers · 2025

    Department of Otorhinolaryngology Head and Neck Surgery，Kunming Children's Hospital（Children's Hospital Affiliated to Kunming Medical University），Kunming，650228，China.

    Papers in Europe PMC
  8. 08
    Chen X3 papers · 2025

    Department of Facial Plastic and Reconstructive Surgery, ENT Institute, Eye & ENT Hospital, Fudan University.

    Papers in Europe PMC
  9. 09
    Coux G3 papers · 2024

    Instituto de Biología Molecular y Celular de Rosario (IBR), Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET), Facultad de Ciencias Bioquímicas y Farmacéuticas, Universidad Nacional de Rosario (UNR), Ocampo y Esmeralda (S2000EZP), Rosario, Argentina. coux@ibr-conicet.gov.ar.

    Papers in Europe PMC
  10. 10
    Ferraro F3 papers · 2026

    Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.

    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 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.

high 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

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.

None of the matched observational studies is currently listed as 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 Treacher-Collins 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.

("Treacher-Collins syndrome" OR "Franceschetti-Klein syndrome" OR "Mandibulofacial dysostosis without limb anomalies" OR "Treacher Collins Syndrome") OR ("POLR1D" OR "POLR1D syndrome" OR "POLR1D-related" OR "TCOF1" OR "TCOF1 syndrome" OR "TCOF1-related")

Run this search on Europe PMC

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

"Treacher-Collins syndrome" OR "Franceschetti-Klein syndrome" OR "Mandibulofacial dysostosis without limb anomalies" OR "Treacher Collins Syndrome"

Study-type breakdown: 0 interventional · 1 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

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 2026-07-26T15:40:55.675Z