RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:1727

22q11.2 duplication syndrome

high confidenceDisorder

Also known as: 22q11.2 microduplication syndrome · Dup(22)(q11) · Duplication 22q11.2 · Trisomy 22q11.2

Publications

362

72.3th percentile

Trials

0

Interventional, condition-specific

Researchers

1,307

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare chromosomal anomaly characterized by an extremely variable clinical and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.

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 (6)

22q11 duplication syndrome · chromosome 22q11.2 microduplication syndrome · chromosome 22q11.2 microduplication syndrome, isolated cases · dup(22)(q11) · duplication 22q11.2 · trisomy 22q11.2

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

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    362 matched papers (257 in last 10 years) Source

  3. Phenotype characterisedPresent

    116 HPO annotations (e.g. Coarse facial features; Epicanthus; Mandibular prognathia) 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 found

    No matched interventional trial under our ClinicalTrials.gov rules

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)

116

Associated phenotypes · MONDO:0012020

  • Coarse facial features
  • Epicanthus
  • Mandibular prognathia
  • Broad forehead
  • Low-set ears

Showing 5 of 116 — 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?

362

362 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

362 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).

257 in the last 10 years · high confidence · 72.3th percentile (publications denominator)

Phrase hits: 362 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,307

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
    Huang H14 papers · 2025

    Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect Fuzhou 350001, Fujian, China.

    Papers in Europe PMC
  2. 02
    Wang Y12 papers · 2025

    Pediatric Intensive Care Unit, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, PRChina. Electronic address: ywang_picu@shsmu.edu.cn.

    Papers in Europe PMC
  3. 03
    Xu L12 papers · 2024

    Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect Fuzhou 350001, Fujian, China.

    Papers in Europe PMC
  4. 04
    Wang X9 papers · 2026

    Department of Ultrasound, Jiangxi Maternal and Child Health Hospital, No. 318, Bayi Avenue, Nanchang, China.

    Papers in Europe PMC
  5. 05
    Cai M8 papers · 2025

    Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect Fuzhou 350001, Fujian, China.

    Papers in Europe PMC
  6. 06
    Lin N8 papers · 2024

    Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect Fuzhou 350001, Fujian, China.

    Papers in Europe PMC
  7. 07
    Liu Y8 papers · 2026

    Medical Genetic Center, Jiangxi Maternal and Child Health Hospital, No. 318, Bayi Avenue, Nanchang, China. lyq0914@126.com.

    Papers in Europe PMC
  8. 08
    Wang J8 papers · 2025

    Department of Medical Genetics, West China Second University Hospital, Sichuan University, Chengdu, 610041, China. hhwj_123@163.com.

    Papers in Europe PMC
  9. 09
    Wu X8 papers · 2024

    Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, China.

    Papers in Europe PMC
  10. 10
    Li Y7 papers · 2023

    Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, 250022, China.

    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).

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.

high 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 2026-07-29

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).

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 duplication 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 duplication syndrome" OR "22q11.2 microduplication syndrome" OR "Dup(22)(q11)" OR "Duplication 22q11.2" OR "Trisomy 22q11.2" OR "22q11 duplication syndrome" OR "chromosome 22q11.2 microduplication syndrome" OR "chromosome 22q11.2 microduplication syndrome, isolated cases"

Run this search on Europe PMC

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

"22q11.2 duplication syndrome" OR "22q11.2 microduplication syndrome" OR "Dup(22)(q11)" OR "Duplication 22q11.2" OR "Trisomy 22q11.2" OR "22q11 duplication syndrome" OR "chromosome 22q11.2 microduplication syndrome" OR "chromosome 22q11.2 microduplication syndrome, isolated cases"

Study-type breakdown: 0 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 multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T18:02:58.960Z