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ORPHA:96123

Monosomy 22 syndrome

low confidenceDisorder

Also known as: Del(22) · Deletion 22

Publications

1,632

Trials

0

Interventional, condition-specific

Researchers

1,539

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare anomaly syndrome, with a highly variable , typically characterized by short length, joint abnormalities (e.g. , hyperextensibility, contractures, dislocation), cardiac defects, and craniofacial dysmorphism (incl. microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and is observed in patients not presenting early demise.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

deletion 22 · monosomy type 22

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.”

2/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,632 matched papers (1,000 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 6 for broader category monosomy

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?

1,632

1,632 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=5449) is 41.

1,632 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).

1,000 in the last 10 years · low confidence

Phrase hits: 1,632 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,539

Distinct author names in 200 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.

  1. 01
    Kantelhardt EJ21 papers · 2026

    Global and Planetary Health Working Group, Institute of Medical Epidemiology, Biometrics, and Informatics, Center of Health Sciences, Medical Faculty of the Martin Luther University Halle-Wittenberg, Magdeburger Str. 8, Halle (Saale), 06112, Germany.

    Papers in Europe PMC
  2. 02
    Addissie A15 papers · 2026

    Department of Epidemiology and Biostatistics, School of Public Health, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia.

    Papers in Europe PMC
  3. 03
    Gizaw M12 papers · 2026

    Global and Planetary Health Working Group, Institute of Medical Epidemiology, Biometrics, and Informatics, Center of Health Sciences, Medical Faculty of the Martin Luther University Halle-Wittenberg, Magdeburger Str. 8, Halle (Saale), 06112, Germany.

    Papers in Europe PMC
  4. 04
    Bonfoh B11 papers · 2026

    Centre Suisse de Recherches Scientifiques en Côte d'Ivoire, Abidjan, Côte d'Ivoire.

    Papers in Europe PMC
  5. 05
    Getachew S10 papers · 2026

    Global and Planetary Health Working Group, Institute of Medical Epidemiology, Biometrics, and Informatics, Center of Health Sciences, Medical Faculty of the Martin Luther University Halle-Wittenberg, Magdeburger Str. 8, Halle (Saale), 06112, Germany.

    Papers in Europe PMC
  6. 06
    Mremi A10 papers · 2025

    Faculty of Medicine, Kilimanjaro Christian Medical University College, P. O. Box 2240, Moshi, Tanzania.

    Papers in Europe PMC
  7. 07
    Kroeber ES9 papers · 2026

    Global and Planetary Health Working Group, Institute of Medical Epidemiology, Biometrics, and Informatics, Center of Health Sciences, Medical Faculty of the Martin Luther University Halle-Wittenberg, Magdeburger Str. 8, Halle (Saale), 06112, Germany.

    Papers in Europe PMC
  8. 08
    Ndung'u T9 papers · 2026

    HIV Pathogenesis Programme, The Doris Duke Medical Research Institute, University of KwaZulu-Natal, Durban, South Africa.

    Papers in Europe PMC
  9. 09
    Destaw A8 papers · 2026

    Global and Planetary Health Working Group, Institute of Medical Epidemiology, Biometrics, and Informatics, Center of Health Sciences, Medical Faculty of the Martin Luther University Halle-Wittenberg, Magdeburger Str. 8, Halle (Saale), 06112, Germany.

    Papers in Europe PMC
  10. 10
    Bosomprah S7 papers · 2026

    Research Division, Centre for Infectious Disease Research in Zambia, Lusaka, Zambia.

    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). 6 trials are registered for monosomy, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

low 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.

6 interventional trials matched monosomy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: monosomy

6

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

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.

"Monosomy 22 syndrome" OR "Del(22)" OR "Deletion 22" OR "monosomy type 22"

Run this search on Europe PMC

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

"Monosomy 22 syndrome" OR "Del(22)" OR "Deletion 22" OR "monosomy type 22"

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

Parent-category trials query:

"monosomy"

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 (1632) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T04:54:01.071Z