ORPHA:295047
Macrodactyly of toes
Also known as: Macrodactyly of foot
Publications
53
37.7th percentile
Trials
0
Interventional, condition-specific
Researchers
376
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare non-syndromic limb overgrowth characterized by isolated enlargement of some or all tissue elements of one or more digits of a foot. Enlargement may be with disproportionate or static with proportionate growth and can be unilateral or bilateral. It typically occurs within a peripheral nerve territory, with the nerve itself being elongated, as well as increased in diameter.
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:0017475
- MeSH:C537719
- UMLS:C0158768
Additional Mondo synonyms (1)
macrodactyly of foot
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
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
53 matched papers (23 in last 10 years) Source
- Phenotype characterisedPresent
17 HPO annotations (e.g. Macrodactyly of toe; Enlarged epiphyses of the toes; Scoliosis) 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
17
Associated phenotypes · MONDO:0017475
- Macrodactyly of toe
- Enlarged epiphyses of the toes
- Scoliosis
- Microtia
- Inguinal hernia
Showing 5 of 17 — 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 2026-07-29
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?
53
53 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.
53 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).
23 in the last 10 years · high confidence · 37.7th percentile (publications denominator)
Phrase hits: 53 · MeSH hits: 1
Who's working on it?
376
Distinct author names in 53 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.
- 01Chen L3 papers · 2023
Department of Ultrasound, Children's hospital of Chongqing Medical University, Chongqing, China; Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China; China International Science and Technology Cooperation base of Child development and Critical Disorders, Chongqing, China; Chongqing Key Laboratory of Pediatrics, Chongqing, China.
Papers in Europe PMC - 02Chen W3 papers · 2023
Department of Joint Surgery, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Papers in Europe PMC - 03Huang W3 papers · 2023
Department of Joint Surgery, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. Electronic address: huangw2016@163.com.
Papers in Europe PMC - 04Tian X3 papers · 2023
Department of Burn and Plastic Surgery, Children's hospital of Chongqing Medical University, Chongqing, China; Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing, China; China International Science and Technology Cooperation base of Child development and Critical Disorders, Chongqing, China; Chongqing Key Laboratory of Pediatrics, Chongqing, China.
Papers in Europe PMC - 05Grogan DP2 papers · 1997
Shriners' Hospital for Crippled Children, Tampa, Florida 33612.
Papers in Europe PMC - 06Pritchard CC2 papers · 2018
Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA.
Papers in Europe PMC - 07Sutton VR2 papers · 2014Papers in Europe PMC
- 08Tatton-Brown K2 papers · 2025
South West Thames Regional Genetics Service, St George's University NHS Foundation Trust, London, and Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom.
Papers in Europe PMC - 09Tsuchiya K2 papers · 2018
Department of Laboratories, Seattle Children's Hospital and.
Papers in Europe PMC - 10Wang Y2 papers · 2024
Department of Pathology, Montefiore Medical Center, Bronx, New York 10467, United States.
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 11 September 2026 · last trial check 11 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.
high 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
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).
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 Macrodactyly of toes — 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.
"Macrodactyly of toes" OR "Macrodactyly of the toes" OR "Macrodactyly of foot" OR "Macrodactyly of the foot"
MeSH descriptor terms unioned into the query: Macrodactyly of the foot
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Macrodactyly of toes" OR "Macrodactyly of the toes" OR "Macrodactyly of foot" OR "Macrodactyly of the foot"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
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 2026-07-27T12:33:12.325Z