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ORPHA:444077

Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

low confidenceDisorder

Also known as: CHOPS syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase). Source fetch failed for trials.

Publications

1,327

Trials

—

Interventional, condition-specific

Researchers

827

Distinct authors in sample

Gene link

AFF4

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic multiple anomalies/ syndrome characterized by global , , short stature, skeletal abnormalities (such as brachydactyly and vertebral anomalies), obesity, cardiac, respiratory, and genitourinary anomalies, and facial features (including coarse facies, thick eyebrows, synophrys, hypertelorism, short, upturned nose, and long philtrum). Additional reported manifestations are microcephaly, hearing impairment, cataract, and gastroesophageal reflux.

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.

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedPresent

    Definitive — AFF4

  2. LiteraturePresent

    1,327 matched papers (1,011 in last 10 years) Source

  3. Phenotype characterisedPresent

    121 HPO annotations (e.g. Intellectual disability; Short stature; Abnormal heart morphology) 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 trialNot checked

    Trial fetch failed or incomplete

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 (AFF4).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

121

Associated phenotypes · MONDO:0014609

  • Intellectual disability
  • Short stature
  • Abnormal heart morphology
  • Patent ductus arteriosus
  • Gastrostomy tube feeding in infancy

Showing 5 of 121 — 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?

1,327

1,327 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.

1,327 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).

1,011 in the last 10 years · low confidence

Phrase hits: 85 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

827

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.

  1. 01
    Izumi K5 papers · 2025

    1] Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. [2] Research Center for Epigenetic Disease, Institute for Molecular and Cellular Biosciences, The University of Tokyo, Tokyo, Japan.

    Papers in Europe PMC
  2. 02
    Krantz ID5 papers · 2025

    Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

    Papers in Europe PMC
  3. 03
    Musio A5 papers · 2022

    Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Pisa, Italy.

    Papers in Europe PMC
  4. 04
    Shirahige K4 papers · 2025

    Institute of Molecular and Cellular Biosciences, The University of Tokyo, and CREST, Japanese Science and Technology Agency, Tokyo, Japan.

    Papers in Europe PMC
  5. 05
    Wang J4 papers · 2025

    Institute for Quantitative Biosciences, The University of Tokyo, Tokyo, Japan.

    Papers in Europe PMC
  6. 06
    Aoi Y3 papers · 2023

    Simpson Querrey Institute for Epigenetics, Department of Biochemistry and Molecular Genetics Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.

    Papers in Europe PMC
  7. 07
    Bando M3 papers · 2025

    Institute for Quantitative Biosciences, The University of Tokyo, Tokyo, Japan.

    Papers in Europe PMC
  8. 08
    Brusco A3 papers · 2024

    Department of Neurosciences Rita Levi-Montalcini, University of Turin, 10126, Turin, Italy.

    Papers in Europe PMC
  9. 09
    Deardorff MA3 papers · 2018

    Division of Human Genetics, Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

    Papers in Europe PMC
  10. 10
    Guex N3 papers · 2024

    Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

—

interventional trials for this specific condition

We could not load trial data for this condition right now.

Data as of 11 September 2026 · last trial check 28 July 2026

low confidence

Recruiting interventional trials

From the matched ClinicalTrials.gov set

Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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).

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 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia 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.

("Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome" OR "CHOPS syndrome") OR ("AFF4" OR "AFF4 syndrome" OR "AFF4-related")

Run this search on Europe PMC

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

(empty)

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

Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22Cognitive%20impairment-coarse%20facies-heart%20defects-obesity-pulmonary%20involvement-short%20stature-skeletal%20dysplasia%20syndrome%22&format=json&pageSize=100&countTotal=true

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 (1327) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T16:28:43.573Z