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ORPHA:251019

2q32q33 deletion syndrome

low confidenceDisorder

Also known as: Del(2)(q32q33) · Monosomy 2q32q33

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

6,666

Trials

0

Interventional, condition-specific

Researchers

1,991

Distinct authors in sample

Gene link

SATB2

Definitive

Readiness

3/6

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.

Orphanet entry

Cross-references

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

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.”

3/6 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.

  1. Gene identifiedPresent

    Definitive — SATB2

  2. LiteraturePresent

    6,666 matched papers (5,506 in last 10 years) Source

  3. Phenotype characterisedPresent

    146 HPO annotations (e.g. Cleft palate; Thin upper lip vermilion; Osteopenia) 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?

Yes — we know a specific gene responsible (SATB2).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

146

Associated phenotypes · MONDO:0012864

  • Cleft palate
  • Thin upper lip vermilion
  • Osteopenia
  • Absent speech
  • Moderate intellectual disability

Showing 5 of 146 — 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?

6,666

6,666 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.

6,666 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).

5,506 in the last 10 years · low confidence

Phrase hits: 202 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Zarate YA12 papers · 2026

    Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

    Papers in Europe PMC
  2. 02
    Fish JL6 papers · 2024

    Department of Biological Sciences, University of Massachusetts Lowell, Lowell, Massachusetts.

    Papers in Europe PMC
  3. 03
    Bosanko K5 papers · 2024

    Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA.

    Papers in Europe PMC
  4. 04
    Bosanko KA5 papers · 2021

    Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas.

    Papers in Europe PMC
  5. 05
    Zhang L5 papers · 2025

    Fujian Medical University, No. 88 Jiaotong Road, Taijiang District, Fuzhou City, 350001, Fujian Province, China.

    Papers in Europe PMC
  6. 06
    Caffrey AR4 papers · 2023

    Health Outcomes, College of Pharmacy, Department of Pharmacy Practice, University of Rhode Island, Kingston, Rhode Island.

    Papers in Europe PMC
  7. 07
    Chen 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
  8. 08
    Faivre 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
  9. 09
    Kleefstra 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
  10. 10
    Li 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 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.

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 2026-07-30

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).

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 2q32q33 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.

("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 (MESH:"Chromosome 2q32-Q33 Deletion Syndrome") OR ("SATB2" OR "SATB2 syndrome" OR "SATB2-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; 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 (6666) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T10:41:22.287Z