ORPHA:861
Treacher-Collins syndrome
Also known as: Franceschetti-Klein syndrome · Mandibulofacial dysostosis without limb anomalies
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
2,417
93.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,010
Distinct authors in sample
Gene link
POLR1D, TCOF1
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0002457
- UMLS:C0242387
- NCIT:C75018
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.”
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 — POLR1D, TCOF1
- LiteraturePresent
2,417 matched papers (1,198 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 (POLR1D, TCOF1).
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?
2,417
2,417 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.
2,417 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).
1,198 in the last 10 years · high confidence · 93.7th percentile (publications denominator)
Phrase hits: 2,417 · MeSH hits: 0
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.
- 01Chen 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 - 02Dowgierd 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 - 03Huang 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 - 04Li Y4 papers · 2026
Department of Ultrasound, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Papers in Europe PMC - 05Trindade-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 - 06Bartlett SP3 papers · 2025
From the Divisions of Plastic, Reconstructive, and Oral Surgery.
Papers in Europe PMC - 07Chen 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 - 08Chen X3 papers · 2025
Department of Facial Plastic and Reconstructive Surgery, ENT Institute, Eye & ENT Hospital, Fudan University.
Papers in Europe PMC - 09Coux 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 - 10Ferraro 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 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.
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.
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.
"Treacher-Collins syndrome" OR "Franceschetti-Klein syndrome" OR "Mandibulofacial dysostosis without limb anomalies" OR "Treacher Collins Syndrome"
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" OR "POLR1D" OR "TCOF1"
Recall-expansion terms: POLR1D, TCOF1
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
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