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ORPHA:1292

Brachymorphism-onychodysplasia-dysphalangism syndrome

medium confidenceDisorder

Also known as: BOD syndrome · Senior syndrome

Publications

316

64.6th percentile

Trials

1

Interventional, condition-specific

Researchers

1,233

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild . It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

bod syndrome

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    316 matched papers (161 in last 10 years) Source

  3. Phenotype characterisedPresent

    49 HPO annotations (e.g. Inguinal hernia; Triangular face; Long philtrum) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

49

Associated phenotypes · MONDO:0007230

  • Inguinal hernia
  • Triangular face
  • Long philtrum
  • High forehead
  • Strabismus

Showing 5 of 49 — 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?

316

316 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=3967) is 59.

316 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).

161 in the last 10 years · medium confidence · 64.6th percentile (publications denominator)

Phrase hits: 316 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,233

Distinct author names in 200 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.

  1. 01
    Amayra I5 papers · 2026

    Neuro-E-Motion Research Team, Department of Psychology, Faculty of Health Sciences, University of Deusto, Avenida de Las Universidades 24, 48007, Bilbao, Spain.

    Papers in Europe PMC
  2. 02
    García M5 papers · 2026

    Neuro-E-Motion Research Team, Department of Psychology, Faculty of Health Sciences, University of Deusto, Avenida de Las Universidades 24, 48007, Bilbao, Spain.

    Papers in Europe PMC
  3. 03
    Miroševič Š5 papers · 2025

    Department of Family Medicine, Medical Faculty Ljubljana, University of Ljubljana, 1000 Ljubljana, Slovenia.

    Papers in Europe PMC
  4. 04
    Osredkar D5 papers · 2025

    Department of Pediatric Neurology, University Children's Hospital, University Medical Center Ljubljana, 1000 Ljubljana, Slovenia.

    Papers in Europe PMC
  5. 05
    Pallarès-Sastre M5 papers · 2026

    Neuro-E-Motion Research Team, Department of Psychology, Faculty of Health Sciences, University of Deusto, Avenida de Las Universidades 24, 48007, Bilbao, Spain. m.pallares@deusto.es.

    Papers in Europe PMC
  6. 06
    Bañuelos S4 papers · 2026

    Department of Biochemistry and Molecular Biology, University of the Basque Country (UPV/EHU), Leioa, Spain.

    Papers in Europe PMC
  7. 07
    Cavaliere F4 papers · 2026

    Achucarro Basque Center for Neuroscience, The Basque Biomodels Platform for Human Research (BBioH), Leioa, Spain.

    Papers in Europe PMC
  8. 08
    Forstnerič V4 papers · 2025

    Department of Synthetic Biology and Immunology, National Institute of Chemistry, 1000 Ljubljana, Slovenia.

    Papers in Europe PMC
  9. 09
    Jerala R4 papers · 2025

    Department of Synthetic Biology and Immunology, National Institute of Chemistry, 1000 Ljubljana, Slovenia.

    Papers in Europe PMC
  10. 10
    Lainšček D4 papers · 2025

    Department of Synthetic Biology and Immunology, National Institute of Chemistry, 1000 Ljubljana, Slovenia.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

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

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

medium confidence · 80.1th 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.

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 42 · after dedupe 42 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 42 · dropped 0 · fetched 2026-07-29

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 (42)

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 Brachymorphism-onychodysplasia-dysphalangism syndrome — check Associations / patient organisations on that page.

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.

"Brachymorphism-onychodysplasia-dysphalangism syndrome" OR "BOD syndrome" OR "Senior syndrome"

Run this search on Europe PMC

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

"Brachymorphism-onychodysplasia-dysphalangism syndrome" OR "BOD syndrome" OR "Senior syndrome"

Interventional trials matched via: phrase (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.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (316) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium

Ingested 2026-07-26T16:55:10.455Z