RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:83628

LUMBAR syndrome

medium 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

480

84.1th percentile

Trials

—

Interventional, condition-specific

Researchers

990

Distinct authors in sample

Gene link

—

Readiness

1/6

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.”

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    480 matched papers (284 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 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)

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?

480

480 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

480 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).

284 in the last 10 years · medium confidence · 84.1th percentile (publications denominator)

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 27 July 2026

medium 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.

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.

"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"

Run this search on Europe PMC

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

(empty)

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

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

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