ORPHA:3027
Caudal regression syndrome
Also known as: Caudal dysgenesis syndrome · Caudal dysplasia · Caudal regression sequence
Publications
923
88.7th percentile
Trials
0
Interventional, condition-specific
Researchers
1,028
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare of the lower spinal segments characterized by a high truncated conus with either aplasia or hypoplasia of the sacrum and lumbar spine. Coexisting malformations of gastrointestinal, genitourinary, skeletal, nervous system are commonly described.
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:0017607
- UMLS:C0300948
- NCIT:C124505
Additional Mondo synonyms (4)
Caudal Regression Syndrome · caudal dysplasia · sacral agenesis syndrome · sacral regression 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.”
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
923 matched papers (425 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?
923
923 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.
923 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).
425 in the last 10 years · high confidence · 88.7th percentile (publications denominator)
Phrase hits: 923 · MeSH hits: 0
Who's working on it?
1,028
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.
- 01Gorter RR5 papers · 2026
Department of Pediatric Surgery, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.
Papers in Europe PMC - 02de Beaufort CMC4 papers · 2026
Department of Pediatric Surgery, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands. c.m.debeaufort@amsterdamumc.nl.
Papers in Europe PMC - 03de Jong JR4 papers · 2026
Department of Pediatric Surgery, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.
Papers in Europe PMC - 04Devesa J3 papers · 2025
Scientific Direction, Medical Center Foltra, 15886 Teo, Spain.
Papers in Europe PMC - 05Kuijper CF3 papers · 2026
Department of Pediatric Urology, Emma Children's Hospital Amsterdam UMC, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.
Papers in Europe PMC - 06Mackay TM3 papers · 2025
Amsterdam UMC, Department of Surgery, Location University of Amsterdam, Meibergdreef 9, Amsterdam, The Netherlands.
Papers in Europe PMC - 07Mosiello G3 papers · 2026
Division of Neuro-Urology, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.
Papers in Europe PMC - 08Ahmed S2 papers · 2025
Department of Genetic Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia Princess Al-Jawhara Al-Brahim Center of Excellence in Research of Hereditary Disorders, Jeddah, Saudi Arabia.
Papers in Europe PMC - 09Bakker DP2 papers · 2026
Amsterdam UMC, Department of Pediatric Neurology, Location University of Amsterdam, Meibergdreef 9, Amsterdam, the Netherlands.
Papers in Europe PMC - 10Balioğlu MB2 papers · 2016
Metin Sabanci Baltalimani Bone Diseases Training and Research Hospital, Baltalimani, 34470 Sariyer, Istanbul, Turkey. mbbalibey@gmail.com.
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.
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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.
"Caudal regression syndrome" OR "Caudal dysgenesis syndrome" OR "Caudal dysplasia" OR "Caudal regression sequence" OR "sacral agenesis syndrome" OR "sacral regression syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Caudal regression syndrome" OR "Caudal dysgenesis syndrome" OR "Caudal dysplasia" OR "Caudal regression sequence" OR "sacral agenesis syndrome" OR "sacral regression 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 2026-07-26T22:03:12.335Z