ORPHA:69082
Odonto-tricho-ungual-digito-palmar syndrome
Also known as: Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type · OTUDP syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
33
32th percentile
Trials
0
Interventional, condition-specific
Researchers
265
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare ectodermal syndrome characterized by teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997.
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:0011171
- MeSH:C566598
- OMIM:601957
- UMLS:C1865998
Additional Mondo synonyms (1)
odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
33 matched papers (14 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
33
33 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.
33 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).
14 in the last 10 years · high confidence · 32th percentile (publications denominator)
Phrase hits: 33 · MeSH hits: 0
Who's working on it?
265
Distinct author names in 33 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.
- 01Wang Y2 papers · 2022
East China Sea Fisheries Research Institute, China Academy of Fishery Sciences, Shanghai, China.
Papers in Europe PMC - 02Aboumsallem JP1 paper · 2021
Department of Cardiology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
Papers in Europe PMC - 03Aguiló-Cucurull A1 paper · 2019
Immunology Division, Department of Cell Biology, Physiology and Immunology, Vall d'Hebron Research Institute, Hospital Universitari Vall d'Hebron, Autonomous University of Barcelona, Barcelona, Spain.
Papers in Europe PMC - 04Aksan G1 paper · 2014
Gokhan Aksan, MD, Department of Cardiology, Gazi State Hospital, Samsun, Turkey.
Papers in Europe PMC - 05Alameda JP1 paper · 2021
Molecular and Translational Oncology Unit, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT), 28040 Madrid, Spain.
Papers in Europe PMC - 06Allende LM1 paper · 2021
Immunology Department, University Hospital 12 de Octubre, Madrid, Spain.
Papers in Europe PMC - 07Aloulou H1 paper · 2024
Department of Pediatrics, Hedi Chaker Hospital, Sfax, Tunisia.
Papers in Europe PMC - 08Amiel J1 paper · 2007Papers in Europe PMC
- 09Andrade EHA1 paper · 2023
Programa de Pós-Graduação em Química, Universidade Federal do Pará, Belém 66075-110, PA, Brazil.
Papers in Europe PMC - 10Angeletti A1 paper · 2022
Unitá Operativa (UO) of Nephrology, Dialysis and Transplantation, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
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.
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.
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.
"Odonto-tricho-ungual-digito-palmar syndrome" OR "Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type" OR "OTUDP syndrome"
MeSH descriptor terms unioned into the query: Odontotrichoungual-Digital-Palmar Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Odonto-tricho-ungual-digito-palmar syndrome" OR "Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type" OR "OTUDP syndrome" OR "Odontotrichoungual-Digital-Palmar Syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; 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 2026-07-27T01:27:45.384Z