ORPHA:264450
Trisomy 8p syndrome
Also known as: Duplication 8p
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
44
33.9th percentile
Trials
0
Interventional, condition-specific
Researchers
250
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable ranging from no features and only mild to patients with severe , , short stature, profound , mild features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, , and spastic paraplegia have also been reported.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0017013
- MeSH:C538019
- UMLS:C0795825
Additional Mondo synonyms (1)
trisomy type 8p
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
44 matched papers (16 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?
44
44 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.
44 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).
16 in the last 10 years · high confidence · 33.9th percentile (publications denominator)
Phrase hits: 44 · MeSH hits: 0
Who's working on it?
250
Distinct author names in 44 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.
- 01Manolakos E3 papers · 2024
Access To Genome, Laboratory of Genetics, Athens 11528‑Thessaloniki 55134, Greece.
Papers in Europe PMC - 02Zuffardi O3 papers · 2017
Department of Molecular Medicine, University of Pavia, I‑27100 Pavia, Italy.
Papers in Europe PMC - 03Albrechts JC2 papers · 1998Papers in Europe PMC
- 04Banda EC2 papers · 2026
Department of Genetics and Genome Sciences, UCONN Health, University of Connecticut, Farmington, Connecticut 06030, USA.
Papers in Europe PMC - 05Barber JC2 papers · 2005
Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire SP2 8BJ, UK. john.barber@salisbury.nhs.uk
Papers in Europe PMC - 06Christopoulos P2 papers · 2024
2nd Department of Obstetrics and Gynecology, Medical School, Aretaieio University Hospital, National & Kapodistrian University of Athens, Athens, Greece.
Papers in Europe PMC - 07Danesino C2 papers · 1996Papers in Europe PMC
- 08Davoli T2 papers · 2026
Institute for Systems Genetics and Department of Biochemistry and Molecular Pharmacology, NYU Langone Health, New York, New York 10016, USA.
Papers in Europe PMC - 09de Die-Smulders CE2 papers · 1998Papers in Europe PMC
- 10Eleftheriades A2 papers · 2024
Department of Obstetrics and Gynaecology, Women' Hospital, University Hospital of Basel, University of Basel, Basel, Switzerland. anna.eleftheriadi@usb.ch.
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.
"Trisomy 8p syndrome" OR "Duplication 8p" OR "trisomy type 8p"
MeSH descriptor terms unioned into the query: Chromosome 8, trisomy 8p
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Trisomy 8p syndrome" OR "Duplication 8p" OR "trisomy type 8p" OR "Chromosome 8, trisomy 8p"
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
Ingested 2026-07-27T11:24:53.978Z