ORPHA:2655
Thanatophoric dysplasia
Also known as: TD
Publications
1,572
90.6th percentile
Trials
0
Interventional, condition-specific
Researchers
1,227
Distinct authors in sample
Gene link
FGFR3
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A primary bone with micromelia characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017042
- MeSH:D013796
- UMLS:C0039743
- NCIT:C85187
Additional Mondo synonyms (2)
FGFR3-related thanatophoric dysplasia · thanatophoric dwarfism
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 — FGFR3
- LiteraturePresent
1,572 matched papers (527 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 (FGFR3).
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?
1,572
1,572 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.
1,572 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).
527 in the last 10 years · medium confidence · 90.6th percentile (publications denominator)
Phrase hits: 1,572 · MeSH hits: 0
Who's working on it?
1,227
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.
- 01Zhang Y6 papers · 2026
Medical Genetic Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong, China.
Papers in Europe PMC - 02Li J4 papers · 2026
Department of Acupuncture and Tuina, Changchun University of Chinese Medicine, Changchun, Jilin, P.R. China.
Papers in Europe PMC - 03Liu Y4 papers · 2025
Xuzhou Clinical Medical School of Nanjing Medical University, Nanjing, Jiangsu, China.
Papers in Europe PMC - 04Nishimura G4 papers · 2025
Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan.
Papers in Europe PMC - 05Striedner Y4 papers · 2024
Institute of Biophysics, Johannes Kepler University, Linz, Austria
Papers in Europe PMC - 06Tiemann-Boege I4 papers · 2024
Institute of Biophysics, Johannes Kepler University, Linz, Austria
Papers in Europe PMC - 07
- 08
- 09Chen CP3 papers · 2024
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
Papers in Europe PMC - 10Dudarewicz L3 papers · 2022
Department of Genetics, Polish Mother's Memorial Hospital-Research Institute, Rzgowska 281/289, 93-338 Lodz, Poland.
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).
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.
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.
"Thanatophoric dysplasia" OR "FGFR3-related thanatophoric dysplasia" OR "thanatophoric dwarfism"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Thanatophoric dysplasia" OR "FGFR3-related thanatophoric dysplasia" OR "thanatophoric dwarfism"
Study-type breakdown: 0 interventional · 0 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: TD
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 2026-07-26T20:46:46.607Z