ORPHA:444051
20q11.2 microdeletion syndrome
Also known as: Del(20)(q11.2) · Monosomy 20q11
Publications
91
46.9th percentile
Trials
0
Interventional, condition-specific
Researchers
666
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, syndromic characterized by psychomotor delay, , feeding difficulties, , anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated growth retardation, and gastrointestinal, heart and eye anomalies have been reported.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018633
- UMLS:C5680063
Additional Mondo synonyms (1)
monosomy 20q11
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
91 matched papers (35 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
91
91 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=5449) is 41.
91 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).
35 in the last 10 years · high confidence · 46.9th percentile (publications denominator)
Phrase hits: 91 · MeSH hits: 0
Who's working on it?
666
Distinct author names in 91 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.
- 01Maciejewski JP4 papers · 2023
Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA; Leukemia Program, Cleveland Clinic, Taussig Cancer Institute, Cleveland, OH 44195, USA. Electronic address: maciejj@ccf.org.
Papers in Europe PMC - 02Zhang Y4 papers · 2022
Senior Department of Hematology, The Fifth Medical Centre of Chinese People's Liberation Army General Hospital, Beijing, China.
Papers in Europe PMC - 03Fang M3 papers · 2026
Clinical Research Division, Fred Hutchinson Cancer Research Center, 1100 Fairview ave N, Seattle, WA 98109, USA; Department of Pathology, University of Washington, 1959 NE Pacific St, Seattle, WA 98195, USA; Department of Laboratory Medicine, University of Washington, 1959 NE Pacific St, Seattle, WA 98195, USA.
Papers in Europe PMC - 04Kantarjian H3 papers · 2015
Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX.
Papers in Europe PMC - 05Kim HJ3 papers · 2024
Laboratory of Hematological Disease and Immunology, Convergent Research Consortium for Immunologic Disease, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Papers in Europe PMC - 06Sekeres MA3 papers · 2015
Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland, OH 44195, USA; Leukemia Program, Cleveland Clinic, Taussig Cancer Institute, Cleveland, OH 44195, USA.
Papers in Europe PMC - 07Verstovsek S3 papers · 2015
Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX.
Papers in Europe PMC - 08Aster JC2 papers · 2020
Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
Papers in Europe PMC - 09Bailey C2 papers · 2017
Myeloma Institute, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Papers in Europe PMC - 10Barlogie B2 papers · 2017
Myeloma Institute, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
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 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.
high 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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.
"20q11.2 microdeletion syndrome" OR "Del(20)(q11.2)" OR "Monosomy 20q11"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"20q11.2 microdeletion syndrome" OR "Del(20)(q11.2)" OR "Monosomy 20q11"
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 2026-07-27T16:28:18.460Z