ORPHA:93396

Brachydactyly type A2

medium confidenceDisorder

Also known as: Brachydactyly, Mohr-Wriedt type

Publications

50.1th percentile

Trials

Interventional, condition-specific

Researchers

662

Distinct authors in sample

Gene link

BMP2, BMPR1B

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, limb characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb is generally milder.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (3)

BDA2 · Mohr-Wriedt type brachydactyly · brachydactyly, Mohr-Wriedt 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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

Gene identifiedPresent
Definitive — BMP2, BMPR1B
LiteraturePresent
85 matched papers (41 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 trialPresent
1 matched on ClinicalTrials.gov

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 (BMP2, BMPR1B).

GenCC classification: Definitive.

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?

85 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.

85 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).

41 in the last 10 years · medium confidence · 50.1th percentile (publications denominator)

Phrase hits: 85 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

662

Distinct author names in 85 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

01
Mundlos S13 papers · 2023
1] Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Berlin, Germany [2] Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC
02
Seemann P8 papers · 2014
Institut für Medizinische Genetik, Charité, Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC
03
Lehmann K5 papers · 2008
Institut für Medizinische Genetik, Humboldt-Universität, Charité, Augustenburger Platz 1, 13353 Berlin, Germany.
Papers in Europe PMC
04
Stricker S5 papers · 2010
Papers in Europe PMC
05
Chen G4 papers · 2026
Institute of Genetics, Life Science College, Zhejiang University, 388 Yuhang Road, Hangzhou 310058, China.
Papers in Europe PMC
06
Cormier-Daire V4 papers · 2023
Department of Genetics, Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hopital Necker-Enfants Malades, Paris, France.
Papers in Europe PMC
07
Kjaer KW4 papers · 2009
Wilhelm Johannsen Centre for Functional Genome Research, Department of Medical Biochemistry and Genetics, University of Copenhagen, Denmark. klaus@medgen.ku.dk
Papers in Europe PMC
08
Knaus P4 papers · 2006
Papers in Europe PMC
09
Klopocki E3 papers · 2024
1] Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany [2] Institute for Human Genetics, University of Würzburg, Würzburg, Germany.
Papers in Europe PMC
10
Krakow D3 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

Clinical research

Is a treatment being tested?

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

medium confidence · 76.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: brachydactyly

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.

"Brachydactyly type A2" OR "Brachydactyly, Mohr-Wriedt type" OR "Mohr-Wriedt type brachydactyly"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Brachydactyly type A2

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Brachydactyly type A2" OR "Brachydactyly, Mohr-Wriedt type" OR "Mohr-Wriedt type brachydactyly" OR "BMP2" OR "BMPR1B"

Recall-expansion terms: BMP2, BMPR1B

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"brachydactyly"

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: BDA2

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 2026-07-27T04:20:34.565Z