ORPHA:251019
2q32q33 deletion syndrome
Also known as: Del(2)(q32q33) · Monosomy 2q32q33
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
202
75.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,991
Distinct authors in sample
Gene link
SATB2
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare partial deletion syndrome characterized by a variable including moderate to severe , behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and craniofacial features. The deletion typically includes the gene SATB2, and patients present with the typical features of SATB2-associated syndrome, with the addition of a variable pattern of cardiovascular, genitourinary, and ectodermal anomalies due to the involvement of adjacent genes.
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:0012864
- MeSH:C567350
- OMIM:612313
- UMLS:C2676739
Additional Mondo synonyms (5)
Del(2)(q32) · chromosome 2q32-q33 deletion syndrome · glass syndrome · monosomy 2q32-q33 · monosomy 2q32q33
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 matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — SATB2
- LiteraturePresent
202 matched papers (168 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?
Yes — we know a specific gene responsible (SATB2).
GenCC classification: Definitive.
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?
202
202 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.
202 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).
168 in the last 10 years · medium confidence · 75.9th percentile (publications denominator)
Phrase hits: 202 · MeSH hits: 0
Who's working on it?
1,991
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.
- 01Zarate YA12 papers · 2026
Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Papers in Europe PMC - 02Fish JL6 papers · 2024
Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts.
Papers in Europe PMC - 03Bosanko K5 papers · 2024
Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
Papers in Europe PMC - 04Bosanko KA5 papers · 2021
Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Papers in Europe PMC - 05Zhang L5 papers · 2025
Fujian Medical University, No. 88 Jiaotong Road, Taijiang District, Fuzhou City, 350001, Fujian Province, China.
Papers in Europe PMC - 06Caffrey AR4 papers · 2023
Health Outcomes, College of Pharmacy, Department of Pharmacy Practice, University of Rhode Island, Kingston, Rhode Island.
Papers in Europe PMC - 07Chen W4 papers · 2024
Division in Cellular and Molecular Medicine, Department of Pathology and Laboratory Medicine, Tulane University School of Medicine, Tulane University, New Orleans, LA, USA. wchen18@tulane.edu.
Papers in Europe PMC - 08Faivre L4 papers · 2025
Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, 15 boulevard du Maréchal de Lattre de Tassigny, 21000, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, CHU Dijon, 21000, Dijon, France.
Papers in Europe PMC - 09Kleefstra T4 papers · 2021
Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Donders Center for Medical Neuroscience, 6525 GA Nijmegen, the Netherlands.
Papers in Europe PMC - 10Li J4 papers · 2023
State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences, and Human Phenome Institute, Fudan University, Shanghai 200438, PRC; CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, PRC.
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.
medium 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.
"2q32q33 deletion syndrome" OR "Del(2)(q32q33)" OR "Monosomy 2q32q33" OR "Del(2)(q32)" OR "chromosome 2q32-q33 deletion syndrome" OR "glass syndrome" OR "monosomy 2q32-q33"
MeSH descriptor terms unioned into the query: Chromosome 2q32-Q33 Deletion Syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"2q32q33 deletion syndrome" OR "Del(2)(q32q33)" OR "Monosomy 2q32q33" OR "Del(2)(q32)" OR "chromosome 2q32-q33 deletion syndrome" OR "glass syndrome" OR "monosomy 2q32-q33" OR "SATB2" OR "partial deletion of the long arm of chromosome 2" OR "partial deletion of chromosome 2"
Recall-expansion terms: SATB2, partial deletion of the long arm of chromosome 2, partial deletion of chromosome 2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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 (202) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T10:41:22.287Z