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ORPHA:96092

8p inverted duplication/deletion syndrome

high confidenceDisorder

Also known as: Invdupdel(8p) · Inverted 8p duplication/deletion syndrome

Publications

38

40.9th percentile

Trials

0

Interventional, condition-specific

Researchers

317

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare chromosomal anomaly clinically characterized by mild to severe , severe (psychomotor and speech development), with tendency to later develop , and characteristic facial features. The main anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%), skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%), and heart defects (25%).

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 (1)

inverted 8p duplication/deletion syndrome

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    38 matched papers (30 in last 10 years) Source

  3. Phenotype characterisedPresent

    56 HPO annotations (e.g. Abnormality of the urinary system; Autism; Short neck) 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

56

Associated phenotypes · MONDO:0019876

  • Abnormality of the urinary system
  • Autism
  • Short neck
  • Precocious puberty
  • Hip dislocation

Showing 5 of 56 — 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?

38

38 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=3967) is 59.

38 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).

30 in the last 10 years · high confidence · 40.9th percentile (publications denominator)

Phrase hits: 38 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

317

Distinct author names in 38 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
    Fernández L2 papers · 2015
    Papers in Europe PMC
  2. 02
    García-Santiago FA2 papers · 2015

    Cytogenetics Unit, Institute of Medical and Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.

    Papers in Europe PMC
  3. 03
    Li J2 papers · 2024

    Obstetrics and Gynecology Medical Center, Nanjing Drum Tower Hospital, Affiliated Hospital of Nanjing Medical University, Nanjing 210008, China.

    Papers in Europe PMC
  4. 04
    Mansilla E2 papers · 2015
    Papers in Europe PMC
  5. 05
    Nevado J2 papers · 2015
    Papers in Europe PMC
  6. 06
    Abbott M1 paper · 2026

    Precision Medicine Institute, Children's Hospital Colorado, Anschutz Medical Campus, 13123 East 16th Avenue, Aurora, CO 80045, United States; University of Colorado, Anschutz Medical Campus, School of Medicine, Department of Pediatrics, Section of Neurology, 13001 E 17th Pl, Aurora, CO 80045, United States. Electronic address: Megan.Abbott@Childrenscolorado.org.

    Papers in Europe PMC
  7. 07
    Agoritsas T1 paper · 2025

    Division of General Internal Medicine, Department of Medicine, Geneva University Hospitals, Geneva, Switzerland.

    Papers in Europe PMC
  8. 08
    Ahn JG1 paper · 2025

    Section of Rheumatology, Allergy & Immunology, Department of Internal Medicine, Yale University School of Medicine, New Haven, CT, United States.

    Papers in Europe PMC
  9. 09
    Ajmani A1 paper · 2026

    Geisel School of Medicine at Dartmouth, Hanover, New Hampshire.

    Papers in Europe PMC
  10. 10
    Akkurt MO1 paper · 2017

    Department of Obstetrics, Gynecology and Reproductive Sciences, University of Maryland, Baltimore, Maryland.

    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.

high 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 8p inverted duplication/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.

"8p inverted duplication/deletion syndrome" OR "Invdupdel(8p)" OR "Inverted 8p duplication/deletion syndrome"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"8p inverted duplication/deletion syndrome" OR "Invdupdel(8p)" OR "Inverted 8p duplication/deletion syndrome"

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

Query health: ok — strategies attempted: phrase; 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 2026-07-27T04:52:03.044Z