ORPHA:236
Trisomy 9p syndrome
Also known as: Duplication 9p · Duplication of the short arm of chromosome 9 · Trisomy of the short arm of chromosome 9
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
320
66.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,374
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by , craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.
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:0016526
- UMLS:C0265428
Additional Mondo synonyms (11)
9p duplication · 9p trisomy · chromosome 9p duplication · partial duplication of chromosome 9p · partial duplication of the short arm of chromosome 9 · partial trisomy 9p · partial trisomy of chromosome 9p · partial trisomy of the short arm of chromosome 9 · partial trisomy of the short arm of chromosome type 9 · trisomy of the short arm of chromosome 9 · trisomy type 9p
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
320 matched papers (101 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?
320
320 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.
320 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).
101 in the last 10 years · medium confidence · 66.4th percentile (publications denominator)
Phrase hits: 320 · MeSH hits: 0
Who's working on it?
1,374
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.
- 01Li Y5 papers · 2025
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Ji'nan, 250022, China.
Papers in Europe PMC - 02Yang Y5 papers · 2023
Department of Clinical Genetics, Bayi Children's Hospital Affiliated to General Hospital of Beijing Military Region, Beijing, China.
Papers in Europe PMC - 03Chen CP4 papers · 2017
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang-Ming University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang-Ming University, Taipei, Taiwan. Electronic address: cpc_mmh@yahoo.com.
Papers in Europe PMC - 04Chen X4 papers · 2024
Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defects, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou City, 350001, Fujian Province, China.
Papers in Europe PMC - 05Liehr T4 papers · 2016
Institute of Human Genetics and Anthropology, Jena University Hospital, Jena, Thuringia, Germany.
Papers in Europe PMC - 06Wang Y4 papers · 2025
Department of Neurology, Affiliated Children's Hospital of Capital Institute of Pediatrics, Beijing, 100020, China.
Papers in Europe PMC - 07Cole FS3 papers · 2025
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA; Department of Cell Biology and Physiology, Washington University School of Medicine, St. Louis Children's Hospital, St. Louis, MO 63110, USA.
Papers in Europe PMC - 08Li H3 papers · 2018Papers in Europe PMC
- 09Lin M3 papers · 2024
Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defects, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, No. 18 Daoshan Road, Gulou District, Fuzhou City, 350001, Fujian Province, China.
Papers in Europe PMC - 10Liu Y3 papers · 2025
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 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.
"Trisomy 9p syndrome" OR "Duplication 9p" OR "Duplication of the short arm of chromosome 9" OR "Duplication of short arm of chromosome 9" OR "Trisomy of the short arm of chromosome 9" OR "Trisomy of short arm of chromosome 9" OR "9p duplication" OR "9p trisomy" OR "chromosome 9p duplication" OR "partial duplication of chromosome 9p" OR "partial duplication of the chromosome 9p" OR "partial duplication of the short arm of chromosome 9" OR "partial duplication of short arm of chromosome 9" OR "partial trisomy 9p" OR "partial trisomy of chromosome 9p" OR "partial trisomy of the chromosome 9p" OR "partial trisomy of the short arm of chromosome 9" OR "partial trisomy of short arm of chromosome 9" OR "partial trisomy of the short arm of chromosome type 9" OR "partial trisomy of short arm of chromosome type 9" OR "trisomy type 9p"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Trisomy 9p syndrome" OR "Duplication 9p" OR "Duplication of the short arm of chromosome 9" OR "Duplication of short arm of chromosome 9" OR "Trisomy of the short arm of chromosome 9" OR "Trisomy of short arm of chromosome 9" OR "9p duplication" OR "9p trisomy" OR "chromosome 9p duplication" OR "partial duplication of chromosome 9p" OR "partial duplication of the chromosome 9p" OR "partial duplication of the short arm of chromosome 9" OR "partial duplication of short arm of chromosome 9" OR "partial trisomy 9p" OR "partial trisomy of chromosome 9p" OR "partial trisomy of the chromosome 9p" OR "partial trisomy of the short arm of chromosome 9" OR "partial trisomy of short arm of chromosome 9" OR "partial trisomy of the short arm of chromosome type 9" OR "partial trisomy of short arm of chromosome type 9" OR "trisomy type 9p" OR "partial trisomy/tetrasomy of chromosome 9"
Recall-expansion terms: partial trisomy/tetrasomy of chromosome 9
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 (320) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-26T13:01:42.068Z