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ORPHA:2911

Poland syndrome

medium confidenceDisorder

Also known as: Poland anomaly · Poland sequence

Publications

1,346

84th percentile

Trials

1

Interventional, condition-specific

Researchers

1,006

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare characterized by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

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

    1,346 matched papers (544 in last 10 years) Source

  3. Phenotype characterisedPresent

    73 HPO annotations (e.g. Unilateral absence of pectoralis major muscle; Short ribs; Unilateral brachydactyly) 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 (1 recruiting in sample)

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)

73

Associated phenotypes · MONDO:0008262

  • Unilateral absence of pectoralis major muscle
  • Short ribs
  • Unilateral brachydactyly
  • Rib fusion
  • Hypoplasia of serratus anterior muscle

Showing 5 of 73 — 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)

1 associated chemical. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Cocaine · marker/mechanism

MyDisease.info · MONDO:0008262

Literature

Is anyone studying this?

1,346

1,346 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,346 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).

544 in the last 10 years · medium confidence · 84th percentile (publications denominator)

Phrase hits: 1,346 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,006

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
    Baldelli I3 papers · 2025

    Department of Surgical Sciences and Integrated Diagnostics (DISC), University of Genoa, Viale Benedetto XV, 6, 2nd Floor, 16132, Genoa, Italy.

    Papers in Europe PMC
  2. 02
    Delay E3 papers · 2024

    Unité de chirurgie plastique et reconstructrice (Dr E Delay), centre Léon-Bérard, 28, rue Laënnec, 69373 Lyon cedex 08, France; Cabinet, 50, rue de la République, 69002 Lyon, France. Electronic address: emmanuel.delay@lyon.unicancer.fr.

    Papers in Europe PMC
  3. 03
    Campbell S2 papers · 2026

    Department of Thoracic Surgery, Mater Misericordiae University Hospital, Dublin, Ireland

    Papers in Europe PMC
  4. 04
    Chen Y2 papers · 2026

    Department of General Surgery, the First Medical Center of the Chinese PLA General Hospital, Beijing, China.

    Papers in Europe PMC
  5. 05
    Chitayat D2 papers · 2024

    Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.

    Papers in Europe PMC
  6. 06
    Cho SY2 papers · 2025

    Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

    Papers in Europe PMC
  7. 07
    Chung JH2 papers · 2022

    Department of Plastic Surgery, Korea University College of Medicine, Seoul, South Korea.

    Papers in Europe PMC
  8. 08
    Doyle R2 papers · 2026

    Department of Thoracic Surgery, Mater Misericordiae University Hospital, Dublin, Ireland

    Papers in Europe PMC
  9. 09
    Forlini V2 papers · 2025

    From the Department of Pediatric Surgery, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

    Papers in Europe PMC
  10. 10
    Frobert P2 papers · 2024

    Unité de chirurgie plastique et reconstructrice, Centre Léon Bérard, 28, rue Laënnec, 69373 Lyon cedex 08, France.

    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; 1 currently recruiting in our sample.

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.

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 74 · after dedupe 73 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 73 · 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 (73)

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 Poland 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.

"Poland syndrome" OR "Poland anomaly" OR "Poland sequence"

Run this search on Europe PMC

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

"Poland syndrome" OR "Poland anomaly" OR "Poland sequence"

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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T21:39:16.514Z