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ORPHA:93403

Syndactyly type 2

low confidenceDisorder

Also known as: Synpolydactyly

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,871

Trials

1

Interventional, condition-specific

Researchers

1,258

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare non-syndromic syndactyly characterized by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

polysyndactyly · syndactyly type 2 · synpolydactyly

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,871 matched papers (1,015 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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?

1,871

1,871 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

1,871 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).

1,015 in the last 10 years · low confidence

Phrase hits: 1,871 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,258

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Li Y7 papers · 2026

    Department of Medical Genetics, School of Basic Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

    Papers in Europe PMC
  2. 02
    Shen X6 papers · 2025

    Department of Pediatric Orthopaedics, Children's Hospital of Soochow University, 92 Zhongnan Street, Suzhou Industrial Park, Suzhou, Jiangsu, 215025, China. Jane.78@163.com.

    Papers in Europe PMC
  3. 03
    Xu Y5 papers · 2025

    Department of Pediatrics, The First Affiliated Hospital, Henan University of Chinese Medicine, Zhengzhou 450000, Henan Province, China.

    Papers in Europe PMC
  4. 04
    Ahmad W4 papers · 2026

    Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

    Papers in Europe PMC
  5. 05
    Li L4 papers · 2026

    Linyi Peoples' Hospital, Shandong Second Medical University, Linyi, Shandong, China.

    Papers in Europe PMC
  6. 06
    Li S4 papers · 2026

    Children’s Medical Center, Peking University First Hospital, Beijing 102699, China

    Papers in Europe PMC
  7. 07
    Zhang J4 papers · 2026

    Department of Clinical Laboratory, Shenzhen Nanshan Maternity and Child Healthcare Hospital, Shenzhen, China.

    Papers in Europe PMC
  8. 08
    Zhang X4 papers · 2023

    Key Laboratory of Molecular Biophysics of the Ministry of Education, College of Life Science and Technology and Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei, China.

    Papers in Europe PMC
  9. 09
    Zhao X4 papers · 2025

    Key Laboratory in Science and Technology Development Project of Suzhou (CN), Pediatric Orthopedics, Children's Hospital of Soochow University, Suzhou, China.

    Papers in Europe PMC
  10. 10
    Chen X3 papers · 2024

    Department of Orthopedic Trauma, Peking University People Hospital, Beijing, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

low confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

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 2026-07-26

This 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 2" OR "Synpolydactyly" OR "polysyndactyly"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Syndactyly, type 2

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Syndactyly type 2" OR "Synpolydactyly" OR "polysyndactyly" OR "Syndactyly, type 2"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 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
  • "polysyndactyly" also appears on ORPHA:93338
  • Publication count (1871) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T04:21:25.502Z