ORPHA:1860
Thanatophoric dysplasia type 1
Also known as: TD1 · Thanatophoric dwarfism type 1
Clinical definition (Orphanet)
A form of thanatophoric characterized by onset of growth deficiency of the limbs of less than 5%, bowed femurs (like a telephone receiver), shortened ribs, and platyspondyly. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, midface hypoplasia, proptosis, and low nasal bridge. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.
How rare: How common this is has not been clearly measured.
Is anyone studying this?
73
73 papers have ever been published on this condition (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=183) is 38.
73 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
36 in the last 10 years · medium confidence · 48.6th percentile (publications denominator)
Is a treatment being tested?
22
trials for this specific condition
22 interventional trials matched this specific condition name; 3 currently recruiting in our sample.
Data as of 26 July 2026
0
no matched trials for thanatophoric dysplasia, the broader category this belongs to either
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
22 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 91.4th percentile).
medium confidence · 91.4th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (FGFR3).
GenCC classification: Definitive.
Who's working on it?
461
Distinct author names in 73 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Nishimura G5 papers · 2025
Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.
Papers in Europe PMC - 02Cormier-Daire V4 papers · 2026
Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.
Papers in Europe PMC - 03Krakow D3 papers · 2026
Departments of Obstetrics and Gynecology, Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
Papers in Europe PMC - 04Li DZ3 papers · 2015
a Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University , Guangzhou, Guangdong , China.
Papers in Europe PMC - 05Mundlos S3 papers · 2023
Institut für medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC - 06Superti-Furga A3 papers · 2026
Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Papers in Europe PMC - 07Unger S3 papers · 2026
Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Papers in Europe PMC - 08Warman ML3 papers · 2026
Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, The Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USA.
Papers in Europe PMC - 09
- 10Baffico M2 papers · 2006Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
22 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06915753·Safety and Preliminary Anti-Tumor Activity of TYRA-430 in Advanced Hepatocellular Carcinoma and Other Solid Tumors With Activating FGF/FGFR Pathway Aberrations
- NCT05614739·FORAGER-1: A Study of LOXO-435 (LY3866288) in Participants With Cancer With a Change in a Gene Called FGFR3
- NCT06995677·Efficacy and Safety of TYRA-300 in Participants With FGFR3 Altered Low Grade, Intermediate Risk Non-Muscle Invasive Bladder Cancer
Observational and natural-history studies
5 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
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 below but are not added to the query string.
"Thanatophoric dysplasia type 1" OR "Thanatophoric dwarfism type 1" OR "thanatophoric dysplasia, type 1" OR "type 1 thanatophoric dysplasia"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Thanatophoric dysplasia type 1" OR "Thanatophoric dwarfism type 1" OR "thanatophoric dysplasia, type 1" OR "type 1 thanatophoric dysplasia" OR "FGFR3"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 22 interventional · 5 observational · 1 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:187600 OMIM:270230 UMLS:C1868678 NCIT:C98583
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: TD1
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