ORPHA:93404
Syndactyly type 3
Also known as: SD3 · Syndactyly of fingers 4 and 5
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
9
17.7th percentile
Trials
0
Interventional, condition-specific
Researchers
67
Distinct authors in sample
Gene link
GJA1
Limited
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare non-syndromic syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The middle phalanx of the fifth finger is usually hypoplastic, and the feet are not affected.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008514
- MeSH:C538154
- OMIM:186100
- UMLS:C1861366
Additional Mondo synonyms (3)
GJA1 non-syndromic syndactyly · non-syndromic syndactyly caused by mutation in GJA1 · syndactyly of fingers 4 and 5
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Limited — GJA1
- LiteraturePresent
9 matched papers (4 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 trialPartial
None under the specific name; 5 for broader category syndactyly
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 GJA1.
GenCC classification: Limited.
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?
9
9 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.
9 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).
4 in the last 10 years · medium confidence · 17.7th percentile (publications denominator)
Phrase hits: 9 · MeSH hits: 0
Who's working on it?
67
Distinct author names in 9 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.
- 01Mundlos S3 papers · 2023
Institut für medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC - 02Cormier-Daire V2 papers · 2023
Paris Cité University, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Imagine Institute, Necker Enfants Malades Hospital (AP-HP), Paris, France.
Papers in Europe PMC - 03Hall C2 papers · 2023
Emerita Consultant Paediatric Radiologist at Great Ormond Street Childrens' Hospital, London, UK.
Papers in Europe PMC - 04Krakow D2 papers · 2023
Departments of Obstetrics and Gynecology, Orthopaedic Surgery and Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.
Papers in Europe PMC - 05Nishimura G2 papers · 2023
Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.
Papers in Europe PMC - 06Savarirayan R2 papers · 2023
Murdoch Children's Research Institute and University of Melbourne, Parkville, Victoria, Australia.
Papers in Europe PMC - 07Sillence D2 papers · 2023
Specialities of Genomic Medicine and Paediatrics and Adolescent Health, Sydney University Clinical School, Children's Hospital, Westmead, NSW, Australia.
Papers in Europe PMC - 08Superti-Furga A2 papers · 2023
Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Papers in Europe PMC - 09Unger S2 papers · 2023
Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Papers in Europe PMC - 10Warman ML2 papers · 2023
Orthopaedic Research Laboratories, Department of Orthopaedic Surgery, The Howard Hughes Medical Institute, Children's Hospital, Boston, Massachusetts, USA.
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). 5 trials are registered for syndactyly, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
5 interventional trials matched syndactyly, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: syndactyly
5
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. 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.
"Syndactyly type 3" OR "Syndactyly of fingers 4 and 5" OR "Syndactyly of the fingers 4 and 5" OR "GJA1 non-syndromic syndactyly" OR "non-syndromic syndactyly caused by mutation in GJA1"
MeSH descriptor terms unioned into the query: Syndactyly, type 3
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Syndactyly type 3" OR "Syndactyly of fingers 4 and 5" OR "Syndactyly of the fingers 4 and 5" OR "GJA1 non-syndromic syndactyly" OR "non-syndromic syndactyly caused by mutation in GJA1" OR "Syndactyly, type 3" OR "GJA1" OR "non-syndromic syndactyly" OR "polydactyly-syndactyly-triphalangism"
Recall-expansion terms: GJA1, non-syndromic syndactyly, polydactyly-syndactyly-triphalangism
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"syndactyly"
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: SD3
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T04:21:34.186Z