ORPHA:295195
Synpolydactyly type 1
Also known as: SD2, Vordingborg type · SD2a · SPD, Vordingborg type · SPD1 · Synpolydactyly, Vordingborg type
Publications
2,315
Trials
0
Interventional, condition-specific
Researchers
127
Distinct authors in sample
Gene link
HOXD13
Strong
Readiness
3/6
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.”
3/6 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
2,315 matched papers (1,297 in last 10 years) Source
- Phenotype characterisedPresent
13 HPO annotations (e.g. Preaxial foot polydactyly; 3-4 finger cutaneous syndactyly; Contracture of the proximal interphalangeal joint of the 5th finger) 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?
Yes — we know a specific gene responsible (HOXD13).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
13
Associated phenotypes · MONDO:0008513
- Preaxial foot polydactyly
- 3-4 finger cutaneous syndactyly
- Contracture of the proximal interphalangeal joint of the 5th finger
- Broad hallux
- Y-shaped metacarpals
Showing 5 of 13 — 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?
2,315
2,315 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=3967) is 59.
2,315 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).
1,297 in the last 10 years · low confidence
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 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.
low 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.
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.
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 5 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · 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 (4)
- ctis·2025-522444-40-00·Authorised, ongoing·An open-label, single-arm extension study to evaluate the long-term safety, tolerability, and efficacy of leniolisib for immune dysregulation in patients with primary immunodeficiency
skipped — LLM skipped (--skip-llm)
- ctis·2024-517725-93-00·Cancelled·A study to assess safety and tolerability, and explore efficacy of leniolisib for immune dysregulation in common variable immunodeficiency
skipped — LLM skipped (--skip-llm)
- ctis·2024-518304-53-00·Expired·A PHASE 3 RANDOMIZED, OPEN-LABEL TRIAL OF SELINEXOR, POMALIDOMIDE, AND DEXAMETHASONE (SPd) VERSUS ELOTUZUMAB, POMALIDOMIDE, AND DEXAMETHASONE (EloPd) IN PATIENTS WITH RELAPSED OR REFRACTORY MULTIPLE MYELOMA (RRMM)
skipped — LLM skipped (--skip-llm)
- ctis·2024-515489-15-00·Cancelled·An Open-Label, Single Arm Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of Leniolisib in Pediatric Patients (Aged 4 to 11 Years) With APDS (Activated Phosphoinositide 3-Kinase Delta Syndrome) Followed by an Open-Label Long-Term Extension
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 Synpolydactyly type 1 — 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.
("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 "HOXD13 syndrome" OR "HOXD13-related")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"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"synpolydactyly"
Query health: ok — strategies attempted: phrase; 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
- Publication count (2315) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T12:34:05.926Z