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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

3/6

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.”

3/6 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 characterisedPresent

    40 HPO annotations (e.g. Posteriorly rotated ears; Retrognathia; Single transverse palmar crease) 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 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)

40

Associated phenotypes · MONDO:0019891

  • Posteriorly rotated ears
  • Retrognathia
  • Single transverse palmar crease
  • Intellectual disability
  • Meningioma

Showing 5 of 40 — 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?

1,632

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=3967) is 59.

1,632 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).

1,000 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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

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 15 · after dedupe 15 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 15 · 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).

Uncertain / not reviewed (15)

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 Monosomy 22 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.

"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