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ORPHA:500135

Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome

low confidenceDisorder

Also known as: MARCH syndrome

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

Publications

2,406

Trials

0

Interventional, condition-specific

Researchers

593

Distinct authors in sample

Gene link

CEP55

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic lethal multiple anomalies/ syndrome characterized by severe hydranencephaly and renal or agenesis. Pregnancy is complicated by oligo- or anhydramnios, leading to features of Potter sequence (including typical facies and microretrognathia, limb contractures, talipes equinovarus, and pulmonary hypoplasia) in the fetus. Affected fetuses either die in utero or shortly after birth. Histology of the brain shows widespread presence of multinucleated neurons and glial cells.

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 (1)

hydranencephaly with renal aplasia-dysplasia

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — CEP55

  2. LiteraturePresent

    2,406 matched papers (1,872 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Low-set ears; Bulbous nose; Renal dysplasia) Source

  4. Animal modelPresent

    1 genotype model (Danio rerio) Source

  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?

Yes — we know a specific gene responsible (CEP55).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

28

Associated phenotypes · MONDO:0009359

  • Low-set ears
  • Bulbous nose
  • Renal dysplasia
  • Talipes equinovarus
  • Short neck

Showing 5 of 28 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

2,406

2,406 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.

2,406 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).

1,872 in the last 10 years · low confidence

Phrase hits: 66 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

593

Distinct author names in 66 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
    Agou F3 papers · 2024

    Chemogenomic and Biological Screening Core Facility, C2RT, Departments of Cell Biology & Infection and of Structural Biology and Chemistry, Institut Pasteur, 25 rue du Dr. Roux, 75724 Paris CEDEX 15, France. Electronic address: fabrice.agou@pasteur.fr.

    Papers in Europe PMC
  2. 02
    Boullé M3 papers · 2024

    Chemogenomic and Biological Screening Core Facility, C2RT, Departments of Cell Biology & Infection and of Structural Biology and Chemistry, Institut Pasteur, 25 rue du Dr. Roux, 75724 Paris CEDEX 15, France; Université de Paris, Sorbonne Paris Cité, Paris, France.

    Papers in Europe PMC
  3. 03
    Frosk P3 papers · 2024

    Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB R3A 1S1, Canada.

    Papers in Europe PMC
  4. 04
    Wang Y3 papers · 2025

    State Key Laboratory of Genetic Engineering, School of Life Sciences, Institute of Biomedical Sciences, Fudan University, Shanghai, China.

    Papers in Europe PMC
  5. 05
    Bain AL2 papers · 2021

    QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, 4006, QLD, Australia.

    Papers in Europe PMC
  6. 06
    Boucharlat A2 papers · 2024

    Chemogenomic and Biological Screening Core Facility, C2RT, Departments of Cell Biology & Infection and of Structural Biology and Chemistry, Institut Pasteur, 25 rue du Dr. Roux, 75724 Paris CEDEX 15, France.

    Papers in Europe PMC
  7. 07
    Boycott KM2 papers · 2022

    CHEO Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada. Electronic address: kboycott@cheo.on.ca.

    Papers in Europe PMC
  8. 08
    Burgess A2 papers · 2021

    ANZAC Research Institute, University of Sydney, Sydney, NSW, Australia.

    Papers in Europe PMC
  9. 09
    Davignon L2 papers · 2022

    Chemogenomic and Biological Screening Core Facility, C2RT, Departments of Cell Biology & Infection and of Structural Biology and Chemistry, Institut Pasteur, 25 rue du Dr. Roux, 75724 Paris CEDEX 15, France.

    Papers in Europe PMC
  10. 10
    Hollenstein M2 papers · 2024

    Laboratory for Bioorganic Chemistry of Nucleic Acids, Department of Structural Biology and Chemistry, Institut Pasteur, Université Paris Cité, CNRS UMR 3523, F-75015 Paris, France.

    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.

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 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · 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 (40)

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 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly 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.

("Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome" OR "MARCH syndrome" OR "hydranencephaly with renal aplasia-dysplasia") OR (MESH:"Hydranencephaly with Renal Aplasia-Dysplasia") OR ("CEP55" OR "CEP55 syndrome" OR "CEP55-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hydranencephaly with Renal Aplasia-Dysplasia

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

"Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome" OR "MARCH syndrome" OR "hydranencephaly with renal aplasia-dysplasia"

Study-type breakdown: 0 interventional · 0 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
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2406) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T17:41:15.252Z