ORPHA:1620
Distal deletion 3p syndrome
Also known as: 3p deletion syndrome · 3p- syndrome · Distal monosomy 3p · Monosomy 3pter · Telomeric monosomy 3p
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
247
62.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,417
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable typically characterized by pre- and post-natal growth retardation, , and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, , renal anomalies and heart defects (e.g. atrioventricular septal defect) may be associated.
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:0013424
- MeSH:C536804
- OMIM:613792
- UMLS:C4706503
- NCIT:C41377
Additional Mondo synonyms (7)
Chromosome 3, Monosomy 3p · chromosome 3pter-p25 deletion syndrome · distal 3p deletion · distal monosomy 3p · distal monosomy type 3p · monosomy 3pter · telomeric monosomy 3p
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
247 matched papers (80 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?
247
247 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.
247 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).
80 in the last 10 years · medium confidence · 62.7th percentile (publications denominator)
Phrase hits: 247 · MeSH hits: 0
Who's working on it?
1,417
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.
- 01Latif F5 papers · 2009Papers in Europe PMC
- 02Schachner M5 papers · 2023
Keck Center for Collaborative Neuroscience and Department of Cell Biology and Neuroscience Rutgers University Piscataway NJ USA.
Papers in Europe PMC - 03Wang Y5 papers · 2020
Department of Pediatric Internal Medicine, the Second Hospital of Shandong University, Jinan, 250000, Shandong, China.
Papers in Europe PMC - 04Liu Y4 papers · 2023
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 05Soderling SH4 papers · 2013
Howard Hughes Medical Institute, Oregon Health & Science University, Portland, Oregon 97239, USA. s.soderling@cellbio.duke.edu
Papers in Europe PMC - 06Zhang L4 papers · 2021
Department of Cardiothoracic Surgery, Xiangya Changde Hospital, Changde, Hunan 415000, P.R. China.
Papers in Europe PMC - 07Burbach JP3 papers · 2016
Department of Translational Neuroscience, Brain Center Rudolf Magnus, University Medical Center Utrecht Utrecht, Netherlands.
Papers in Europe PMC - 08Chen J3 papers · 2021
Departments of Clinical Oncology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China.
Papers in Europe PMC - 09Gibbs RA3 papers · 2020
Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Papers in Europe PMC - 10Huang J3 papers · 2023
BGI-Wuhan Clinical Laboratory, BGI-Shenzhen, 430074, Wuhan, 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 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.
"Distal deletion 3p syndrome" OR "3p deletion syndrome" OR "3p- syndrome" OR "Distal monosomy 3p" OR "Monosomy 3pter" OR "Telomeric monosomy 3p" OR "Chromosome 3, Monosomy 3p" OR "chromosome 3pter-p25 deletion syndrome" OR "distal 3p deletion" OR "distal monosomy type 3p"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Distal deletion 3p syndrome" OR "3p deletion syndrome" OR "3p- syndrome" OR "Distal monosomy 3p" OR "Monosomy 3pter" OR "Telomeric monosomy 3p" OR "Chromosome 3, Monosomy 3p" OR "chromosome 3pter-p25 deletion syndrome" OR "distal 3p deletion" OR "distal monosomy type 3p" OR "partial deletion of the short arm of chromosome 3" OR "partial deletion of chromosome 3"
Recall-expansion terms: partial deletion of the short arm of chromosome 3, partial deletion of chromosome 3
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, 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 (247) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T17:49:43.184Z