ORPHA:1860
Thanatophoric dysplasia type 1
Also known as: TD1 · Thanatophoric dwarfism type 1
Publications
73
43.6th percentile
Trials
0
Interventional, condition-specific
Researchers
461
Distinct authors in sample
Gene link
FGFR3
Definitive
Readiness
3/6
Stages with a signal
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008546
- OMIM:187600
- OMIM:270230
- UMLS:C1868678
- NCIT:C98583
Additional Mondo synonyms (3)
thanatophoric dwarfism type 1 · thanatophoric dysplasia, type 1 · type 1 thanatophoric dysplasia
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.”
3/6 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
73 matched papers (36 in last 10 years) Source
- Phenotype characterisedPresent
80 HPO annotations (e.g. Abnormality of the kidney; Brachydactyly; Split hand) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
80
Associated phenotypes · MONDO:0008546
- Abnormality of the kidney
- Brachydactyly
- Split hand
- Hypotonia
- Joint stiffness
Showing 5 of 80 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-27
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?
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=3967) is 59.
73 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).
36 in the last 10 years · medium confidence · 43.6th percentile (publications denominator)
Phrase hits: 73 · MeSH hits: 0
Who's working on it?
461
Distinct author names in 73 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.
- 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
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 9 September 2026 · last trial check 9 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.
Broader category thanatophoric dysplasia also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: thanatophoric dysplasia
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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 60 · after dedupe 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 19 · dropped 40 · fetched 2026-07-27
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 (19)
- ctis·2024-519494-19-00·Authorised, ongoing·A randomized, double-blind, Phase 3 study to investigate efficacy and safety of teplizumab compared with placebo in participants 1 to 25 years of age with recently diagnosed Stage 3 Type 1 Diabetes (T1D) (βETA PRESERVE)
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-519822-18-00·Authorised, ongoing·An Open-Label, Long-Term Extension Study to Investigate the Safety, Tolerability, and Durability of Treatment Effect of ALKS 2680 in Subjects With Narcolepsy Type 1 and Type 2 and Idiopathic Hypersomnia
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-519151-28-00·Authorised, ongoing·A Study of LY4057996 in Healthy Participants and Participants with Type 1 and Type 2 Diabetes (YKAA)
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-507545-28-00·Authorised, ongoing·Safety and efficacy of very short dual antiplatelet therapy followed by P2Y12 inhibitor monotherapy in older patients undergoing percutaneous coronary intervention.
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-514942-35-00·Expired·"A study to test how well BI 3000202 is tolerated by people with type 1 interferonopathies"
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-515741-42-00·Expired·HAELO: A Phase 3, Multinational, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of NTLA-2002 in Participants With Hereditary Angioedema (HAE)
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-515106-30-00·Authorised, ongoing·A Phase I/II Double-blind, randomized, placebo-controlled trial to preserve residual insulin secretion in children with recent onset Type 1 diabetes by giving oral Verapamil
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-518554-17-00·Authorised·A GLP-1 receptor PET imaging add-on study within the VERA-T1D trial investigating the effects on beta cell mass (Image-VER-A-T1D)
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-512024-10-01·Authorised, ongoing·PROTamine Application in patients underGOing tRAnScatheter aortic valve replacement (PROTAGORAS)
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-510408-32-02·Revoked·Premixed glucagon/insulin solution for faster insulin absorption in Type 1 diabetes.
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-520324-29-00·Authorised·PLatelet aggregation and Aspirin low response in Type One Diabetes and the association with vascular damage and diabetic Nephropathy
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-506545-27-01·Cancelled·A randomised, double-blind, placebo controlled, parallel group, multi-centre trial in adult subjects with newly diagnosed type 1 diabetes mellitus investigating the effect of Verapamil SR on preservation of beta-cell function (VER-A-T1D)
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-519562-48-00·Authorised, ongoing·Desferal administration to improve the impaired reaction to hypoxia in diabetes (DESIRED) - A randomised, double-blind, placebo-controlled, cross-over study.
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-516575-32-00·Cancelled·A bioavailability study of epinephrine following a single dose of emergency response auto-injector in comparison to epinephrine injection into muscle via syringe in healthy adults.
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-513472-18-00·Cancelled·A study to test how insulin NNC0471-0119 H works in the body in participants with type 1 diabetes when given by an insulin pump.
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-506862-30-00·Authorised, ongoing·LAMAinDiab - lisdexamphetamine vs methylphenidate for pediatric patients with ADHD and type 1 diabetes - a randomized crossover clinical trial.
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-513484-89-00·Cancelled·Open-label Extension Study to Evaluate the Long-term Safety and Efficacy of Mexiletine in Paediatric Patients with Myotonic Disorders Who Have Completed MEX-NM-301.
skipped — Beyond per-disease secondary LLM cap
- ctis·2024-517216-29-00·Expired·A Phase I, Single-Arm, Sequential Study to Evaluate the Effect of Food on the Gastrointestinal Tolerability and Pharmacokinetics of Selumetinib after Multiple Doses in Adolescent Children with Neurofibromatosis Type 1 (NF1) Related Plexiform Neurofibromas (PN)
skipped — Beyond per-disease secondary LLM cap
- ctis·2023-506540-16-01·Expired·A Phase 2 Long-Term Open-Label Trial to Assess the Safety and Efficacy of Repeat Dosing of STAR-0215 in Adult Patients with Hereditary Angioedema (The ALPHA-SOLAR Trial)
skipped — Beyond per-disease secondary LLM cap
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 Thanatophoric dysplasia type 1 — check Associations / patient organisations on that page.
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 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"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"thanatophoric dysplasia"
Query health: ok — strategies attempted: phrase; with hits: phrase
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
Ingested 2026-07-26T01:58:55.042Z