ORPHA:3378
Trisomy 13 syndrome
Also known as: Patau syndrome
Publications
7,030
93.2th percentile
Trials
4
Interventional, condition-specific
Researchers
1,114
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare chromosomal anomaly characterized by the presence of extra chromosome 13 material and manifesting with severe and multiple anomalies including holoprosencephaly, microcephaly, microphthalmia, scalp defect, cleft lip/palate, heart defects, and postaxial polydactyly. Neurological involvement may lead to and .
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018068
- MeSH:C536305
- UMLS:C0152095
- NCIT:C101223
- NCIT:C36529
Additional Mondo synonyms (4)
Patau's syndrome · Trisomy 13 Syndrome · trisomy 13 · trisomy type 13
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
7,030 matched papers (3,652 in last 10 years) Source
- Phenotype characterisedPresent
60 HPO annotations (e.g. Malar flattening; Microphthalmia; Postaxial hand polydactyly) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialPresent
4 matched on ClinicalTrials.gov (2 recruiting in sample)
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)
60
Associated phenotypes · MONDO:0018068
- Malar flattening
- Microphthalmia
- Postaxial hand polydactyly
- Hypotonia
- Abnormality of the middle ear
Showing 5 of 60 — 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?
7,030
7,030 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
7,030 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).
3,652 in the last 10 years · high confidence · 93.2th percentile (publications denominator)
Phrase hits: 7,030 · MeSH hits: 0
Who's working on it?
1,114
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Chen CP5 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 - 02
- 03Li C3 papers · 2023
Department of Obstetrics and Gynecology, Xijing Hospital, The Fourth Military Medical University, 127 West ChangLe Road, Xi'an, 710032, Shaanxi, China.
Papers in Europe PMC - 04Liu J3 papers · 2025
Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, China.
Papers in Europe PMC - 05Abdul Rab S2 papers · 2023
College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Papers in Europe PMC - 06Abdulwahab AH2 papers · 2023
Department of Radiology, College of Medicine, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia.
Papers in Europe PMC - 07Al Nefily RM2 papers · 2023
Department of Pediatrics, King Fahad Hospital of the University- Al-Khobar, Saudi Arabia.
Papers in Europe PMC - 08Al-Shammari AA2 papers · 2023
Department of Pediatrics, College of Medicine, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia.
Papers in Europe PMC - 09AlAnazi RA2 papers · 2023
Department of Family and Community Medicine, College of Medicine, Imam Abdulrahman bin Faisal University, Dammam, Saudi Arabia.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
4
interventional trials for this specific condition
4 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 17 trials are registered for trisomy, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 11 September 2026
4 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 88.1th percentile).
high confidence · 88.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
4 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT06938542·ENROLLING BY INVITATION·Palliative Care Needs of Children With Rare Diseases and Their Families
Not reviewed·Conditions: Trisomy 13 Syndrome · Arthrogryposis Congenita Multiplex With Intestinal Atresia · Asparagine Synthetase Deficiency · CHARGE Syndrome·Matched via name phrase
- NCT06740162·RECRUITING·Physical Activity and Community EmPOWERment Project
Not reviewed·Conditions: Intellectual Disability · Neurodevelopmental Disorders · Autism Spectrum Disorder · Down Syndrome·Matched via name phrase
Broader category: trisomy
17
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
- NCT05231798·RECRUITING·Cholinergic Integrity in Down Syndrome in Association With Aging, Alzheimer's Disease Pathology, and Cognition
Not reviewed·Conditions: Down Syndrome · Down Syndrome, Partial Trisomy 21 · Alzheimer Disease·Matched via name phrase
- NCT06911944·NOT YET RECRUITING·Amyloid Lowering for Alzheimer's in Down's With Donanemab Investigation
Not reviewed·Conditions: Down Syndrome (DS) · Down Syndrome (Trisomy 21) · Alzheimer Disease · Amyloid Beta Protein·Matched via name phrase
- NCT07658053·NOT YET RECRUITING·Effects of a Pacifier on Obstructive Sleep Apnea and Its Repercussions in Infants With Down Syndrome
Not reviewed·Conditions: Obstructive Sleep Apnea · Down Syndrome (Trisomy 21)·Matched via name phrase
- NCT07234695·RECRUITING·LEvetiracetam to Prevent Seizures in Symptomatic Alzheimer's Disease in Adults With Down Syndrome
Not reviewed·Conditions: Down Syndrome · Down Syndrome (DS) · Down Syndrome (Trisomy 21) · Alzheimer Dementia·Matched via name phrase
- NCT05527652·RECRUITING·Self-Supporting Nasopharyngeal Airway (ssNPA) Treating Upper Airway Obstruction in Hypotonia
Not reviewed·Conditions: Obstructive Sleep Apnea · Hypertonia, Muscle · Nasal Airway Obstruction · Tolerance·Matched via name phrase
- NCT05970965·RECRUITING·Periodontitis and Inflammation in Children With Down Syndrome/Trisomy 21: Study on Biological Samples
Not reviewed·Conditions: Periodontitis · Trisomy 21·Matched via name phrase
- NCT06783725·RECRUITING·Sleep Intervention and Quality of Life in Down Syndrome
Not reviewed·Conditions: Down Syndrome · Down Syndrome (Trisomy 21)·Matched via name phrase
- NCT07334912·RECRUITING·AEF0217 in Participants With Down Syndrome
Not reviewed·Conditions: Down Syndrome (Trisomy 21)·Matched via name phrase
Observational and natural-history studies
20 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
- NCT07643896·RECRUITING·The ADVANCE (Assay Development and Validation for Pre-Natal and Obstetric Conditions) Study is the Largest U.S.-Based Prospective Study Demonstrating a Circulating Fetal Cell (CFC) Based Approach to Non-invasive Fetal Risk Assessment
Not reviewed·Conditions: Pregnant Individuals · Aneuploidy · Down Syndrome (Trisomy 21) · 22q11.2 Deletion Syndrome·Matched via name phrase
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 9 · after dedupe 9 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 9 · dropped 0 · fetched 2026-07-29
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).
Uncertain / not reviewed (9)
- isrctn·ISRCTN17997560·Recruiting·Long-term assessment of developmental outcomes of newborn babies with sepsis
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN71774663·Recruiting·Does use of a new pre-eclampsia screening test reduce pre-eclampsia and preterm birth in the NHS?
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN17442511·No longer recruiting·Sharing of eggs produced during the IVF process for scientific research into fertility treatments, miscarriage, and the origin of genetic disorders
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN13902755·No longer recruiting·Social communication intervention for young children with Down syndrome
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN65197569·Stopped·The effect of parental group sleep education in young children with Down syndrome: the REST-Ed study
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN12067514·No longer recruiting·Reduced Fetal Movement Intervention Trial (ReMIT-2)
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN11174071·No longer recruiting·Comparison of false positive rates in prenatal combined screening and cell free DNA screening for trisomy 21
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN15915491·No longer recruiting·Iloprost in patients with Eisenmenger syndrome
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN18016226·No longer recruiting·Improving decision support about prenatal screening for pregnant women and counselors
skipped — LLM skipped (--skip-llm)
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 Trisomy 13 syndrome — check Associations / patient organisations on that page.
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 13 syndrome" OR "Patau syndrome" OR "Patau's syndrome" OR "trisomy 13" OR "trisomy type 13"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Trisomy 13 syndrome" OR "Patau syndrome" OR "Patau's syndrome" OR "trisomy 13" OR "trisomy type 13"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 4 interventional · 20 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 2026-07-26T23:02:18.278Z