ORPHA:295197
Synpolydactyly type 2
Also known as: SD2, Debeer type · SD2b · SPD, Debeer type · SPD2 · Synpolydactyly, Debeer type
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
2,701
Trials
0
Interventional, condition-specific
Researchers
9
Distinct authors in sample
Gene link
FBLN1
Limited
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:0011984
- MeSH:C564278
- OMIM:608180
- UMLS:C1842422
Additional Mondo synonyms (3)
synpolydactyly type 2 · synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses · synpolydactyly, Debeer 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
Limited — FBLN1
- LiteraturePresent
2,701 matched papers (2,091 in last 10 years) Source
- Phenotype characterisedPresent
6 HPO annotations (e.g. Metatarsal synostosis; Toe syndactyly; Polydactyly) 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?
Possibly — only limited evidence so far for FBLN1.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
6
Associated phenotypes · MONDO:0011984
- Metatarsal synostosis
- Toe syndactyly
- Polydactyly
- Tarsal synostosis
- Carpal synostosis
Showing 5 of 6 — 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?
2,701
2,701 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.
2,701 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).
2,091 in the last 10 years · low confidence
Phrase hits: 2 · MeSH hits: 0
Who's working on it?
9
Distinct author names in 2 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.
- 01Chakravarti S1 paper · 2022
Department of Ophthalmology and Department of Pathology, Grossman School of Medicine, New York University, New York, NY, USA; email: shukti.chakravarti@nyulangone.org, maithe.rochamonteirodebarros@nyulangone.org.
Papers in Europe PMC - 02Drongitis D1 paper · 2020
Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", CNR, 80131 Naples, Italy.
Papers in Europe PMC - 03Enzo E1 paper · 2022
Center for Regenerative Medicine "Stefano Ferrari," University of Modena and Reggio Emilia, Modena, Italy; email: elena.enzo@unimore.it, mbmaffezzoni@gmail.com, graziella.pellegrini@unimore.it.
Papers in Europe PMC - 04Maffezzoni MBR1 paper · 2022
Center for Regenerative Medicine "Stefano Ferrari," University of Modena and Reggio Emilia, Modena, Italy; email: elena.enzo@unimore.it, mbmaffezzoni@gmail.com, graziella.pellegrini@unimore.it.
Papers in Europe PMC - 05Miano MG1 paper · 2020
Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", CNR, 80131 Naples, Italy.
Papers in Europe PMC - 06Pellegrini G1 paper · 2022
Center for Regenerative Medicine "Stefano Ferrari," University of Modena and Reggio Emilia, Modena, Italy; email: elena.enzo@unimore.it, mbmaffezzoni@gmail.com, graziella.pellegrini@unimore.it.
Papers in Europe PMC - 07Poeta L1 paper · 2020
Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", CNR, 80131 Naples, Italy.
Papers in Europe PMC - 08Rocha Monteiro de Barros M1 paper · 2022
Department of Ophthalmology and Department of Pathology, Grossman School of Medicine, New York University, New York, NY, USA; email: shukti.chakravarti@nyulangone.org, maithe.rochamonteirodebarros@nyulangone.org.
Papers in Europe PMC - 09Verrillo L1 paper · 2020
Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", CNR, 80131 Naples, Italy.
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 2 — 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 2" OR "SD2, Debeer type" OR "SPD, Debeer type" OR "Synpolydactyly, Debeer type" OR "synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses") OR (MESH:"Synpolydactyly 2") OR ("FBLN1" OR "FBLN1 syndrome" OR "FBLN1-related")MeSH descriptor terms unioned into the query: Synpolydactyly 2
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Synpolydactyly type 2" OR "SD2, Debeer type" OR "SPD, Debeer type" OR "Synpolydactyly, Debeer type" OR "synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses" OR "Synpolydactyly 2"
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, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: SD2b; SPD2
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 (2701) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T12:34:14.667Z