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ORPHA:3375

Trisomy X syndrome

high confidenceDisorder

Also known as: 47,XXX syndrome · Triplo-X syndrome · XXX syndrome

Publications

2,328

93.8th percentile

Trials

0

Interventional, condition-specific

Researchers

1,075

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare sex-chromosome anomaly characterized by a variable , including various degree of global , tall stature, epicanthal folds, , and clinodactyly in association with , renal and genitourinary abnormalities, and premature ovarian failure (POF).

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

47,XXX · triple X syndrome · trisomy X · trisomy type X

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,328 matched papers (1,241 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 20 for broader category trisomy

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?

2,328

2,328 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

2,328 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).

1,241 in the last 10 years · high confidence · 93.8th percentile (publications denominator)

Phrase hits: 2,328 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,075

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
    Tartaglia N11 papers · 2026

    eXtraordinarY Kids Clinic, Developmental Pediatrics, Children's Hospital Colorado, Aurora, Colorado, USA.

    Papers in Europe PMC
  2. 02
    Gravholt CH10 papers · 2025

    Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, Aarhus 8200, Denmark; Department of Molecular Medicine, Aarhus University Hospital, Brendstrupgårdsvej 21A, Aarhus 8200, Denmark; Department of Clinical Medicine, Aarhus University, Palle Juul-Jensens Blvd. 82, Aarhus 8200, Denmark. Electronic address: claus.gravholt@clin.au.dk.

    Papers in Europe PMC
  3. 03
    Bothwell S8 papers · 2026

    Department of Pediatrics, University of Colorado School of Medicine, USA; Extraordinary Kids Clinic, Developmental Pediatrics, Children's Hospital Colorado, USA.

    Papers in Europe PMC
  4. 04
    Li Y8 papers · 2026

    Department of Laboratory Medicine, Zhongnan Hospital, Wuhan university, Wuhan, Hubei, P. R. China.

    Papers in Europe PMC
  5. 05
    Zhang Y8 papers · 2026

    Department of Prenatal diagnosis and screening center, Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital), Hangzhou, Zhejiang, China.

    Papers in Europe PMC
  6. 06
    Chen CP7 papers · 2026

    Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan. Electronic address: cpc_mmh@yahoo.com.

    Papers in Europe PMC
  7. 07
    Davis S7 papers · 2026

    Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.

    Papers in Europe PMC
  8. 08
    Davis SM7 papers · 2025

    Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, 80045, USA. Shanlee.davis@childrenscolorado.org.

    Papers in Europe PMC
  9. 09
    Howell S6 papers · 2026

    Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, 80045, USA.

    Papers in Europe PMC
  10. 10
    Huang H6 papers · 2025

    Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fuzhou, 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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 20 trials are registered for trisomy, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

20 interventional trials matched trisomy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: trisomy

20

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Recruiting under the broader category

Observational and natural-history studies

2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Trisomy X syndrome" OR "47,XXX syndrome" OR "Triplo-X syndrome" OR "XXX syndrome" OR "47,XXX" OR "triple X syndrome" OR "trisomy X" OR "trisomy type X"

Run this search on Europe PMC

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

"Trisomy X syndrome" OR "47,XXX syndrome" OR "Triplo-X syndrome" OR "XXX syndrome" OR "47,XXX" OR "triple X syndrome" OR "trisomy X" OR "trisomy type X"

Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"trisomy"

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 2026-07-26T23:00:57.629Z