RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:83628

LUMBAR syndrome

low confidenceDisorder

Also known as: Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome · PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome · SACRAL syndrome

Query health: suspect — Source fetch failed for trials.

Publications

401,253

Trials

—

Interventional, condition-specific

Researchers

990

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported.

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 (2)

perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome · urorectal septum malformation sequence

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

    401,253 matched papers (204,315 in last 10 years) Source

  3. Phenotype characterisedPresent

    17 HPO annotations (e.g. Ambiguous genitalia; Bifid uterus; Ectopic anus) 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 checked

    Trial fetch failed or incomplete

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)

17

Associated phenotypes · MONDO:0019388

  • Ambiguous genitalia
  • Bifid uterus
  • Ectopic anus
  • Skin tags
  • Hypospadias

Showing 5 of 17 — 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?

401,253

401,253 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.

401,253 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).

204,315 in the last 10 years · low confidence

Phrase hits: 480 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

990

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.

  1. 01
    Metry DW8 papers · 2025

    Department of Dermatology, Baylor College of Medicine, Houston, Texas, USA.

    Papers in Europe PMC
  2. 02
    Siegel DH7 papers · 2025

    Department of Dermatology, and by Courtesy, Pediatrics, Stanford University, School of Medicine, Palo Alto, California, USA.

    Papers in Europe PMC
  3. 03
    Mirnezami AH6 papers · 2026

    Southampton Complex Cancer and Exenteration Team, University Hospital Southampton, Southampton SO16 6YD, UK.

    Papers in Europe PMC
  4. 04
    West MA6 papers · 2026

    Southampton Complex Cancer and Exenteration Team, University Hospital Southampton, Southampton SO16 6YD, UK.

    Papers in Europe PMC
  5. 05
    Huang H5 papers · 2023

    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. huanghailong@fjmu.edu.cn.

    Papers in Europe PMC
  6. 06
    Lin N5 papers · 2023

    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. linna1088@fjmu.edu.cn.

    Papers in Europe PMC
  7. 07
    West CT5 papers · 2026

    Southampton Complex Cancer and Exenteration Team, University Hospital Southampton, Southampton SO16 6YD, UK.

    Papers in Europe PMC
  8. 08
    Xu L5 papers · 2023

    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. xiliangpu@fjmu.edu.cn.

    Papers in Europe PMC
  9. 09
    Yano H5 papers · 2026

    Southampton Complex Cancer and Exenteration Team, University Hospital Southampton, Southampton SO16 6YD, UK.

    Papers in Europe PMC
  10. 10
    Cai M4 papers · 2022

    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?

—

interventional trials for this specific condition

We could not load trial data for this condition right now.

Data as of 11 September 2026 · last trial check 31 July 2026

low confidence

Recruiting interventional trials

From the matched ClinicalTrials.gov set

Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.

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 75 · after dedupe 75 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 75 · 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).

Uncertain / not reviewed (75)

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 LUMBAR 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.

("LUMBAR syndrome" OR "Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome" OR "PELVIS syndrome" OR "Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome" OR "SACRAL syndrome" OR "perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus syndrome" OR "urorectal septum malformation sequence") OR ("LUMBAR" OR "LUMBAR-related")

Run this search on Europe PMC

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

"LUMBAR syndrome"

Query health: suspect — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22LUMBAR%20syndrome%22%20OR%20%22Lower%20body%20hemangioma-urogenital%20anomalies-myelopathy-bony%20deformities-anorectal%20and%20arterial%20malformations-renal%20anomalies%20syndrome%22%20OR%20%22PELVIS%20syndrome%22%20OR%20%22Perineal%20hemangioma-external%20genitalia%20malformations-lipomyelomeningocele-vesicorenal%20abnormalities-imperforate%20anus-skin%20tag%20syndrome%22%20OR%20%22SACRAL%20syndrome%22%20OR%20%22perineal%20hemangioma-external%20genitalia%20malformations-lipomyelomeningocele-vesicorenal%20abnormalities-imperforate%20anus%20syndrome%22%20OR%20%22urorectal%20septum%20malformation%20sequence%22&format=json&pageSize=100&countTotal=true

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (401253) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T02:41:36.601Z