ORPHA:295012
Syndactyly type 6
Also known as: Mitten hand · Syndactyly, mitten type · Unilateral syndactyly of digits 2-5
Publications
74
47.4th percentile
Trials
0
Interventional, condition-specific
Researchers
348
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare non-syndromic syndactyly characterized by unilateral fusion of 2nd to 5th fingers, amalgamation of distal phalanges in a knot-like structure, and fusion of the 2nd and 3rd toe. Some individuals present only with webbing between the 2nd and 3rd toes, without involvement of fingers.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017460
- UMLS:C4706525
Additional Mondo synonyms (3)
mitten hand · syndactyly, mitten type · unilateral syndactyly of digits 2-5
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
74 matched papers (49 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- 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 trialPartial
None under the specific name; 5 for broader category syndactyly
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)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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?
74
74 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.
74 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).
49 in the last 10 years · high confidence · 47.4th percentile (publications denominator)
Phrase hits: 74 · MeSH hits: 0
Who's working on it?
348
Distinct author names in 74 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.
- 01Mendenhall SD3 papers · 2025
Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Papers in Europe PMC - 02Shah AS3 papers · 2025
Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia, PA, USA.
Papers in Europe PMC - 03Ayub M2 papers · 2024
Institute of Biochemistry, Faculty of Life Sciences, University of Balochistan, Quetta, Pakistan
Papers in Europe PMC - 04Basit S2 papers · 2024
Center for Genetics and Inherited Diseases, Taibah University Almadinah, Medina, Kingdom of Saudi Arabia
Papers in Europe PMC - 05Chang B2 papers · 2025
Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Papers in Europe PMC - 06Farokh Forghani S2 papers · 2025
Burn Research Center, Iran University of Medical Sciences, Tehran, Iran
Papers in Europe PMC - 07Irilouzadian R2 papers · 2025
Burn Research Center, Iran University of Medical Sciences, Tehran, Iran
Papers in Europe PMC - 08
- 09Saraee A2 papers · 2025
Department of Plastic and Reconstructive Surgery, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran
Papers in Europe PMC - 10Shabbak A2 papers · 2025
Burn and Regenerative Medicine Research Center, Guilan University of Medical Sciences, Rasht, Iran
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). 5 trials are registered for syndactyly, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
5 interventional trials matched syndactyly, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: syndactyly
5
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).
Uncertain / not reviewed (1)
- isrctn·ISRCTN46338401·No longer recruiting·Lending a helping hand to very preterm babies by enabling play
skipped — LLM skipped (--skip-llm)
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 Syndactyly type 6 — 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.
"Syndactyly type 6" OR "Mitten hand" OR "Syndactyly, mitten type" OR "Unilateral syndactyly of digits 2-5" OR "Unilateral syndactyly of the digits 2-5"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Syndactyly type 6" OR "Mitten hand" OR "Syndactyly, mitten type" OR "Unilateral syndactyly of digits 2-5" OR "Unilateral syndactyly of the digits 2-5"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"syndactyly"
Query health: ok — strategies attempted: phrase; 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 2026-07-27T12:31:08.591Z