ORPHA:295197

Synpolydactyly type 2

medium confidenceSubtype of disorder

Also known as: SD2, Debeer type · SD2b · SPD, Debeer type · SPD2 · Synpolydactyly, Debeer type

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

12.1th percentile

Trials

Interventional, condition-specific

Researchers

Distinct authors in sample

Gene link

FBLN1

Limited

Readiness

2/6

Stages with a signal

Orphanet entry

Cross-references

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

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.”

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
Limited — FBLN1
LiteraturePresent
2 matched papers (2 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?

Possibly — only limited evidence so far for FBLN1.

GenCC classification: Limited.

FBLN1

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?

2 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.

2 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).

2 in the last 10 years · medium confidence · 12.1th percentile (publications denominator)

Phrase hits: 2 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

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.

01
Chakravarti 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
02
Drongitis D1 paper · 2020
Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", CNR, 80131 Naples, Italy.
Papers in Europe PMC
03
Enzo 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
04
Maffezzoni 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
05
Miano MG1 paper · 2020
Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", CNR, 80131 Naples, Italy.
Papers in Europe PMC
06
Pellegrini 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
07
Poeta L1 paper · 2020
Institute of Genetics and Biophysics "Adriano Buzzati-Traverso", CNR, 80131 Naples, Italy.
Papers in Europe PMC
08
Rocha 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
09
Verrillo 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?

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

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 2026-07-26

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.

"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"

Run this search on Europe PMC

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" OR "FBLN1" OR "non-syndromic synpolydactyly"

Recall-expansion terms: FBLN1, 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, mesh, recall-expansion; 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

Ingested 2026-07-27T12:34:14.667Z