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ORPHA:567

22q11.2 deletion syndrome

low confidenceDisorder

Also known as: 22q11DS · CATCH 22 · Cayler cardiofacial syndrome · Conotruncal anomaly face syndrome · DiGeorge sequence · DiGeorge syndrome · Microdeletion 22q11.2 · Monosomy 22q11 · Sedlackova syndrome · Shprintzen syndrome · Takao syndrome · Velocardiofacial syndrome

Publications

15,596

Trials

22

Interventional, condition-specific

Researchers

1,306

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare chromosomal anomaly which causes a disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, and immune deficiency.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (5)

Chromosome 22q11.2 Deletion Syndrome · catch 22 · conotruncal anomaly face syndrome · microdeletion 22q11.2 · monosomy 22q11

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.”

5/6 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

    15,596 matched papers (8,763 in last 10 years) Source

  3. Phenotype characterisedPresent

    348 HPO annotations (e.g. Cryptorchidism; Vesicoureteral reflux; Microcephaly) Source

  4. Animal modelPresent

    67 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationPartial

    3 EMA designations (none yet with FDA orphan-indication approval) — e.g. autologous induced pluripotent stem cells-derived thymic epithelial cells transduced with a lentiviral vector encoding forkhead box protein N1 Source

  6. Interventional trialPresent

    22 matched on ClinicalTrials.gov (5 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)

348

Associated phenotypes · MONDO:0018923

  • Cryptorchidism
  • Vesicoureteral reflux
  • Microcephaly
  • Micrognathia
  • Protruding ear

Showing 5 of 348 — open Monarch for the full list.

Animal models (Monarch / Alliance)

67

Model associations linked to this Mondo ID

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)

3

Designations · no FDA orphan-indication approval yet

  • EMA autologous induced pluripotent stem cells-derived thymic epithelial cells transduced with a lentiviral vector encoding forkhead box protein N1Treatment of DiGeorge syndrome · 24/05/2024 · PositiveEMA designation
  • EMA cannabidiolTreatment of 22q11.2 deletion syndrome · 11/11/2022 · PositiveEMA designation
  • EMA allogeneic cultured postnatal thymus-derived tissueTreatment of DiGeorge syndrome · 26/02/2019 · WithdrawnEMA designation

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

6

Drugs / clinical candidates · MONDO_0018923

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

15,596

15,596 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

15,596 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).

8,763 in the last 10 years · low confidence

Phrase hits: 15,596 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,306

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
    Eliez S15 papers · 2026

    Developmental Imaging and Psychopathology Laboratory, University of Geneva School of medicine, Geneva, Switzerland; Department of Genetic Medicine and Development, University of Geneva School of medicine, Geneva, Switzerland.

    Papers in Europe PMC
  2. 02
    Schneider M11 papers · 2026

    Clinical Psychology Unit for Intellectual and Developmental Disabilities, Faculty of Psychology and Educational Sciences, University of Geneva, Geneva, Switzerland.

    Papers in Europe PMC
  3. 03
    Delavari F10 papers · 2026

    Developmental Imaging and Psychopathology Laboratory, University of Geneva School of medicine, Geneva, Switzerland; Neuro-X Institute, École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland.

    Papers in Europe PMC
  4. 04
    McDonald-McGinn DM10 papers · 2026

    22q and You Center at the Children's Hospital of Philadelphia, Philadelphia, USA.

    Papers in Europe PMC
  5. 05
    Sandini C9 papers · 2026

    Developmental Imaging and Psychopathology Laboratory, University of Geneva School of medicine, Geneva, Switzerland. Electronic address: corrado.sandini@unige.ch.

    Papers in Europe PMC
  6. 06
    Bassett AS7 papers · 2026

    The Dalglish Family 22Q Clinic, Toronto General Hospital, University Health Network, Toronto, Canada.

    Papers in Europe PMC
  7. 07
    Crowley TB7 papers · 2026

    22q and You Center at the Children's Hospital of Philadelphia, Philadelphia, USA.

    Papers in Europe PMC
  8. 08
    Boot E6 papers · 2026

    Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands. erik.boot@sheerenloo.nl.

    Papers in Europe PMC
  9. 09
    Forrer S6 papers · 2026

    Developmental Imaging and Psychopathology Laboratory, University of Geneva School of Medicine, Geneva, Switzerland; Medical Image Processing Laboratory, Institute of Bioengineering, École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland.

    Papers in Europe PMC
  10. 10
    Reich N6 papers · 2026

    Developmental Imaging and Psychopathology Laboratory, University of Geneva School of medicine, Geneva, Switzerland.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

22

interventional trials for this specific condition

22 interventional trials matched this specific condition name; 5 currently recruiting in our sample.

Data as of 11 September 2026

22 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 95.2th percentile).

low confidence · 95.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

22 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

16 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched 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 29 · after dedupe 29 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 29 · 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 (29)

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 22q11.2 deletion 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.

"22q11.2 deletion syndrome" OR "22q11DS" OR "CATCH 22" OR "Cayler cardiofacial syndrome" OR "Conotruncal anomaly face syndrome" OR "DiGeorge sequence" OR "DiGeorge syndrome" OR "Microdeletion 22q11.2" OR "Monosomy 22q11" OR "Sedlackova syndrome" OR "Shprintzen syndrome" OR "Takao syndrome" OR "Velocardiofacial syndrome" OR "Chromosome 22q11.2 Deletion Syndrome"

Run this search on Europe PMC

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

"22q11.2 deletion syndrome" OR "22q11DS" OR "CATCH 22" OR "Cayler cardiofacial syndrome" OR "Conotruncal anomaly face syndrome" OR "DiGeorge sequence" OR "DiGeorge syndrome" OR "Microdeletion 22q11.2" OR "Monosomy 22q11" OR "Sedlackova syndrome" OR "Shprintzen syndrome" OR "Takao syndrome" OR "Velocardiofacial syndrome" OR "Chromosome 22q11.2 Deletion 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: 22 interventional · 16 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 (15596) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T14:22:29.858Z