ORPHA:3352
Tricho-dento-osseous syndrome
Also known as: TDO syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
223
64.9th percentile
Trials
0
Interventional, condition-specific
Researchers
968
Distinct authors in sample
Gene link
DLX3
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Tricho-dento-osseous (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008592
- MeSH:C536549
- OMIM:190320
- UMLS:C0265333
Additional Mondo synonyms (3)
TDO · TRICHODENTOOSSEOUS syndrome · Tricho Dento Osseous Syndrome
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
Strong — DLX3
- LiteraturePresent
223 matched papers (91 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 (DLX3).
GenCC classification: Strong.
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?
223
223 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=5449) is 41.
223 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).
91 in the last 10 years · medium confidence · 64.9th percentile (publications denominator)
Phrase hits: 223 · MeSH hits: 0
Who's working on it?
968
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.
- 01Wright JT17 papers · 2023
Department of Basic Science and Craniofacial Biology, College of Dentistry, New York University, New York, New York; Department of Preventive and Restorative Dental Sciences, University of California, San Francisco, San Francisco, California; Department of Pediatric Dentistry, School of Dentistry, University of North Carolina, Chapel Hill, North Carolina; Herman Ostrow School of Dentistry, Center for Craniofacial Molecular Biology, University of Southern California, Los Angeles, California.
Papers in Europe PMC - 02Morasso MI14 papers · 2018
Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892, United States. Electronic address: morasso@nih.gov.
Papers in Europe PMC - 03Han D10 papers · 2026
Department Prosthodontics, Peking University School and Hospital of Stomatology & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, PR China.
Papers in Europe PMC - 04Hart TC10 papers · 2009
Department of Pediatrics, Bowman Gray School of Medicine, Winston-Salem, NC 27157, USA. thart@bgsm.edu
Papers in Europe PMC - 05Wang Y10 papers · 2025
Central Laboratory, Peking University School and Hospital of Stomatology, 22 Zhongguancun Avenue South, Haidian District, Beijing 100081, PR China. Electronic address: kqwangyx@bjmu.edu.cn.
Papers in Europe PMC - 06Feng H9 papers · 2026
Department Prosthodontics, Peking University School and Hospital of Stomatology & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, PR China. Electronic address: kqfenghl@bjmu.edu.cn.
Papers in Europe PMC - 07Liu H9 papers · 2026
Department Prosthodontics, Peking University School and Hospital of Stomatology & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, PR China.
Papers in Europe PMC - 08Liu Y9 papers · 2026
Department Prosthodontics, Peking University School and Hospital of Stomatology & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, PR China.
Papers in Europe PMC - 09Duverger O8 papers · 2018
Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892, United States. Electronic address: duvergero@mail.nih.gov.
Papers in Europe PMC - 10MacDougall M8 papers · 2022
Department of Oral and Maxillofacial Surgery, Institute of Oral Health Research, School of Dentistry, University of Alabama at Birmingham, Birmingham, Alabama, USA.
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.
"Tricho-dento-osseous syndrome" OR "TDO syndrome" OR "TRICHODENTOOSSEOUS syndrome" OR "Tricho Dento Osseous Syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Tricho-dento-osseous syndrome" OR "TDO syndrome" OR "TRICHODENTOOSSEOUS syndrome" OR "Tricho Dento Osseous Syndrome" OR "DLX3"
Recall-expansion terms: DLX3
Study-type breakdown: 0 interventional · 0 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
Synonyms dropped by stoplist: TDO
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 2026-07-26T22:58:24.650Z