ORPHA:295195
Synpolydactyly type 1
Also known as: SD2, Vordingborg type · SD2a · SPD, Vordingborg type · SPD1 · Synpolydactyly, Vordingborg type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
15
30.9th percentile
Trials
0
Interventional, condition-specific
Researchers
127
Distinct authors in sample
Gene link
HOXD13
Strong
Readiness
2/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008513
- OMIM:186000
- UMLS:C5574994
Additional Mondo synonyms (4)
HOXD13 non-syndromic synpolydactyly · non-syndromic synpolydactyly caused by mutation in HOXD13 · synpolydactyly type 1 · synpolydactyly, Vordingborg 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.”
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 — HOXD13
- LiteraturePresent
15 matched papers (13 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 (HOXD13).
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?
15
15 papers have ever been indexed 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.
15 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).
13 in the last 10 years · medium confidence · 30.9th percentile (publications denominator)
Phrase hits: 15 · MeSH hits: 0
Who's working on it?
127
Distinct author names in 15 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.
- 01Xu X2 papers · 2023
Department of Medical Genetics, College of Basic Medical Sciences, Third Military Medical University, Chongqing, China.
Papers in Europe PMC - 02Zhou J2 papers · 2023
Computational Bioscience Research Center (CBRC), Computer, Electrical and Mathematical Sciences and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955, Saudi Arabia.
Papers in Europe PMC - 03Abad-Perez AT1 paper · 2023
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institut für Medizinische Genetik und Humangenetik, Berlin, Germany.
Papers in Europe PMC - 04Akay G1 paper · 2022
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Papers in Europe PMC - 05Al-Qattan MM1 paper · 2020
Division of Plastic and Hand Surgery, Department of Surgery at King Saud University, Riyadh, Saudi Arabia.
Papers in Europe PMC - 06An Y1 paper · 2021
Human Phenome Institute, MOE Key Laboratory of Contemporary Anthropology, and School of Life Sciences, Fudan University, Shanghai, China.
Papers in Europe PMC - 07Anderson JT1 paper · 2024
Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, USA.
Papers in Europe PMC - 08Aslan H1 paper · 2022
Department of Medical Genetics, Adana City Training and Research Hospital, Adana, Turkey.
Papers in Europe PMC - 09Bai J1 paper · 2019
Laboratory of Medical Genetics, Harbin Medical University, 157 Baojian Road, Nangang District, Harbin, 150081, China.
Papers in Europe PMC - 10Bai Y1 paper · 2014
Department of Thoracic and Cardiac Surgery, Southwest Hospital, Third Military Medical University, Chongqing, China.
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.
Broader category synpolydactyly also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: synpolydactyly
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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.
"Synpolydactyly type 1" OR "SD2, Vordingborg type" OR "SPD, Vordingborg type" OR "Synpolydactyly, Vordingborg type" OR "HOXD13 non-syndromic synpolydactyly" OR "non-syndromic synpolydactyly caused by mutation in HOXD13"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Synpolydactyly type 1" OR "SD2, Vordingborg type" OR "SPD, Vordingborg type" OR "Synpolydactyly, Vordingborg type" OR "HOXD13 non-syndromic synpolydactyly" OR "non-syndromic synpolydactyly caused by mutation in HOXD13" OR "HOXD13" OR "non-syndromic synpolydactyly"
Recall-expansion terms: HOXD13, non-syndromic synpolydactyly
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"synpolydactyly"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: SD2a; SPD1
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T12:34:05.926Z