ORPHA:1768
Familial caudal dysgenesis
Also known as: Rudd-Klimek syndrome
Publications
2,365
Trials
0
Interventional, condition-specific
Researchers
1,085
Distinct authors in sample
Gene link
VANGL1
Limited
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010831
- OMIM:600145
- UMLS:C2931053
- NCIT:C99054
Additional Mondo synonyms (2)
caudal regression · familial caudal dysgenesis
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Limited — VANGL1
- LiteraturePresent
2,365 matched papers (1,271 in last 10 years) Source
- Phenotype characterisedPresent
30 HPO annotations (e.g. Rectal abscess; Myeloschisis; Absence of the sacrum) 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 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?
Possibly — only limited evidence so far for VANGL1.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
30
Associated phenotypes · MONDO:0010831
- Rectal abscess
- Myeloschisis
- Absence of the sacrum
- Headache
- Constipation
Showing 5 of 30 — 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)
1 associated chemical · 9 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.
- Tretinoin · marker/mechanism
Pathways: Wnt signaling pathway; Metabolism; Signal Transduction; Signalling by NGF; NGF processing; Chylomicron-mediated lipid transport; Lipoprotein metabolism; Metabolism of lipids and lipoproteins
Literature
Is anyone studying this?
2,365
2,365 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=3967) is 59.
2,365 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).
1,271 in the last 10 years · low confidence
Phrase hits: 1,092 · MeSH hits: 0
Who's working on it?
1,085
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 RR3 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 - 02Sichitiu J3 papers · 2026
Ultrasound and Fetal Medicine Unit, Woman-Mother-Child Department, University Hospital Center CHUV, Lausanne, Switzerland.
Papers in Europe PMC - 03Avelar-Gonzalez FJ2 papers · 2025
Laboratory of Environmental Studies, Department of Physiology and Pharmacology, Basic Sciences Center, Autonomous University of Aguascalientes, Aguascalientes, Mexico.
Papers in Europe PMC - 04Bakker DP2 papers · 2026
Amsterdam UMC, Department of Pediatric Neurology, Location University of Amsterdam, Meibergdreef 9, Amsterdam, the Netherlands.
Papers in Europe PMC - 05Ballardini E2 papers · 2026
Department of Medical Sciences, Neonatal Intensive Care Unit, University Hospital of Ferrara, University of Ferrara, IMER Registry (Emilia Romagna Registry of Birth Defects), Ferrara, Italy.
Papers in Europe PMC - 06
- 07Bergman JEH2 papers · 2026
Eurocat Northern Netherlands, Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Papers in Europe PMC - 08Bouhmani B2 papers · 2026
Réanimation Néonatale Et Pédiatrique, Néonatologie, CHU La Réunion, Saint Pierre, France.
Papers in Europe PMC - 09Bouhya S2 papers · 2024
Maternity Service, Mother and Child Hospital Abderrahim Harouchi, University Hospital IBN ROCHD of Casablanca, Morocco; Gynecology Obstetric Department, Faculty of Medicine and Pharmacy of Casablanca, Hassan 2 University of Casablanca, Morocco; Biology and Health Laboratory (LBS), Hassan 2 University of Casablanca, Morocco.
Papers in Europe PMC - 10Chandra T2 papers · 2025
Pediatric Radiology, Nemours Children's Hospital, Orlando, USA.
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.
low 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.
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
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 2026-07-29
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).
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 Familial caudal dysgenesis — 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.
("Familial caudal dysgenesis" OR "Rudd-Klimek syndrome" OR "caudal regression") OR ("VANGL1" OR "VANGL1 syndrome" OR "VANGL1-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial caudal dysgenesis" OR "Rudd-Klimek syndrome" OR "caudal regression"
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
- Publication count (2365) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T18:05:49.664Z