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ORPHA:93929

Cloacal exstrophy

medium confidenceSubtype of disorder

Also known as: OEIS complex · Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,169

84th percentile

Trials

0

Interventional, condition-specific

Researchers

1,040

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare genitourinary characterized by urogenital, gastrointestinal, skeletal and neurospinal anomalies. It is the most severe part of the spectrum of the exstrophy-epispadias complex (EEC) and is also referred as the OEIS complex (omphalocele, exstrophy, imperforate anus and spinal defects).

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (3)

cloacal exstrophy · cloacal exstrophy (disease) · omphalocele-cloacal exstrophy-imperforate anus-spinal defect 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.”

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

    1,169 matched papers (545 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Abnormal clitoris morphology; Ureteropelvic junction obstruction; Talipes equinovarus) 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 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)

24

Associated phenotypes · MONDO:0009774

  • Abnormal clitoris morphology
  • Ureteropelvic junction obstruction
  • Talipes equinovarus
  • Anal atresia
  • Spina bifida

Showing 5 of 24 — 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?

1,169

1,169 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.

1,169 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).

545 in the last 10 years · medium confidence · 84th percentile (publications denominator)

Phrase hits: 1,169 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,040

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.

  1. 01
    Gearhart JP22 papers · 2026

    Robert D. Jeffs Division of Pediatric Urology, Brady Urological Institute, The Johns Hopkins Medical Institutions, Baltimore, MD, USA. Electronic address: jgearha2@jhmi.edu.

    Papers in Europe PMC
  2. 02
    Haffar A10 papers · 2026

    Robert D. Jeffs Division of Pediatric Urology, Brady Urological Institute, The Johns Hopkins Medical Institutions, Baltimore, MD, USA. Electronic address: ahaffar1@jh.edu.

    Papers in Europe PMC
  3. 03
    Ieiri S10 papers · 2026

    Department of Pediatric Surgery, Research Field in Medicine and Health Sciences, Medical and Dental Sciences Area, Research and Education Assembly, Kagoshima University, 8-35-1, Sakuragaoka, Kagoshima, 890-8520, Japan. sieiri@m.kufm.kagoshima-u.ac.jp.

    Papers in Europe PMC
  4. 04
    Kubota M10 papers · 2026

    Representative of Research Team for the Establishment of Treatment Guidelines for Persistent Cloaca, Cloacal Exstrophy and Mayer‑Rokitansky‑Küster‑Häuser Syndrome for the Proper Transitional Care of the Patients, The Research Project for Rare and Intractable Diseases of the Ministry of Health, Labour and Welfare (MHLW), Tokyo, Japan.

    Papers in Europe PMC
  5. 05
    Crigger C9 papers · 2024

    Robert D. Jeffs Division of Pediatric Urology, Brady Urological Institute, The Johns Hopkins Medical Institutions, Baltimore, MD, USA. Electronic address: crigge2@jhu.edu.

    Papers in Europe PMC
  6. 06
    Harumatsu T9 papers · 2026

    Department of Pediatric Surgery, Research Field in Medicine and Health Sciences, Medical and Dental Sciences Area, Research and Education Assembly, Kagoshima University, 8-35-1, Sakuragaoka, Kagoshima, 890-8520, Japan.

    Papers in Europe PMC
  7. 07
    Kawano T9 papers · 2026

    Department of Pediatric Surgery, Research Field in Medicine and Health Sciences, Medical and Dental Sciences Area, Research and Education Assembly, Kagoshima University, 8-35-1, Sakuragaoka, Kagoshima, 890-8520, Japan.

    Papers in Europe PMC
  8. 08
    Sugita K9 papers · 2026

    Department of Pediatric Surgery, Research Field in Medicine and Health Sciences, Medical and Dental Sciences Area, Research and Education Assembly, Kagoshima University, 8-35-1, Sakuragaoka, Kagoshima, 890-8520, Japan.

    Papers in Europe PMC
  9. 09
    Yano K9 papers · 2026

    Department of Pediatric Surgery, Research Field in Medicine and Health Sciences, Medical and Dental Sciences Area, Research and Education Assembly, Kagoshima University, 8-35-1, Sakuragaoka, Kagoshima, 890-8520, Japan.

    Papers in Europe PMC
  10. 10
    Crigger CB8 papers · 2026

    Department of Pediatric Urology, Charlotte Bloomberg Children's Hospital, Johns Hopkin Medicine, 1800 Orleans Street, Baltimore, MD 21287, United States.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

medium 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.

Observational and natural-history studies

1 observational study matches 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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-30

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).

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 Cloacal exstrophy — 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.

"Cloacal exstrophy" OR "OEIS complex" OR "Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome" OR "cloacal exstrophy (disease)"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: [OBSOLETE] Omphalocele exstrophy imperforate anus

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

"Cloacal exstrophy" OR "OEIS complex" OR "Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome" OR "cloacal exstrophy (disease)" OR "[OBSOLETE] Omphalocele exstrophy imperforate anus"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • "OEIS complex" also appears on ORPHA:322

Ingested 2026-07-27T04:32:02.859Z