ORPHA:93394
Brachydactyly type A4
Also known as: Brachydactyly, Temtamy type · Brachymesophalangy II and V
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
37
40.6th percentile
Trials
0
Interventional, condition-specific
Researchers
319
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare limb characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated.
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:0007218
- MeSH:C537097
- OMIM:112800
- UMLS:C1862139
Additional Mondo synonyms (4)
BDA4 · Temtamy type brachydactyly · brachydactyly, Temtamy type · brachymesophalangy II and V
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
37 matched papers (25 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
37
37 papers have ever been published on this condition (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.
37 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).
25 in the last 10 years · medium confidence · 40.6th percentile (publications denominator)
Phrase hits: 37 · MeSH hits: 0
Who's working on it?
319
Distinct author names in 37 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.
- 01Cormier-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 - 02Dislich B2 papers · 2023
Institute of Pathology, University of Bern, Bern, Switzerland.
Papers in Europe PMC - 03Gockel I2 papers · 2024
Klinik für Viszeral-, Transplantations-, Thorax- und Gefäßchirurgie, Leipzig, Germany.
Papers in Europe PMC - 04Hall C2 papers · 2023
Emerita Consultant Paediatric Radiologist at Great Ormond Street Childrens' Hospital, London, UK.
Papers in Europe PMC - 05Krakow 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 - 06Langer R2 papers · 2023
Institute of Pathology, University of Bern, Bern, Switzerland.
Papers in Europe PMC - 07Mundlos S2 papers · 2023
Institut für medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC - 08Nishimura G2 papers · 2023
Department of Radiology, Musashino-Yowakai Hospital, Tokyo, Japan.
Papers in Europe PMC - 09Savarirayan R2 papers · 2023
Murdoch Children's Research Institute and University of Melbourne, Parkville, Victoria, Australia.
Papers in Europe PMC - 10Sillence 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
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 brachydactyly 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: brachydactyly
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.
"Brachydactyly type A4" OR "Brachydactyly, Temtamy type" OR "Brachymesophalangy II and V" OR "Temtamy type brachydactyly"
MeSH descriptor terms unioned into the query: Brachymesophalangy 2 and 5
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Brachydactyly type A4" OR "Brachydactyly, Temtamy type" OR "Brachymesophalangy II and V" OR "Temtamy type brachydactyly" OR "Brachymesophalangy 2 and 5"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"brachydactyly"
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: BDA4
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 2026-07-27T04:20:16.983Z