RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:363409

Fetal akinesia-cerebral and retinal hemorrhage syndrome

low confidenceDisorder

Also known as: LCCS5 · Lethal congenital contracture syndrome type 5

Publications

2,591

Trials

0

Interventional, condition-specific

Researchers

92

Distinct authors in sample

Gene link

DNM2

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.

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)

lethal congenital contracture syndrome type 5

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.

  1. Gene identifiedPresent

    Limited — DNM2

  2. LiteraturePresent

    2,591 matched papers (1,853 in last 10 years) Source

  3. Phenotype characterisedPresent

    16 HPO annotations (e.g. Centrally nucleated skeletal muscle fibers; Elevated circulating creatine kinase activity; Polyhydramnios) 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?

Possibly — only limited evidence so far for DNM2.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

16

Associated phenotypes · MONDO:0014149

  • Centrally nucleated skeletal muscle fibers
  • Elevated circulating creatine kinase activity
  • Polyhydramnios
  • Generalized hypotonia
  • EEG with burst suppression

Showing 5 of 16 — 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?

2,591

2,591 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.

2,591 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).

1,853 in the last 10 years · low confidence

Phrase hits: 14 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

92

Distinct author names in 14 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
    Agger JW1 paper · 2020

    Department of Biotechnology and Biomedicine, Technical University of Denmark, Søltofts Plads 221, 2800, Kongens Lyngby, Denmark. jaag@dtu.dk.

    Papers in Europe PMC
  2. 02
    Al-Hashim A1 paper · 2019

    Division of Neurology and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.

    Papers in Europe PMC
  3. 03
    Al-Maawali A1 paper · 2019

    Division of Neurology and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.

    Papers in Europe PMC
  4. 04
    Alkuraya FS1 paper · 2014

    Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia falkuraya@kfshrc.edu vgupta@enders.tch.harvard.edu.

    Papers in Europe PMC
  5. 05
    Antoun S1 paper · 2020

    Pediatrics Department, Hôtel-Dieu de France, Beirut, Lebanon.

    Papers in Europe PMC
  6. 06
    Bitoun M1 paper · 2022

    Institute of Myology, Centre of Research in Myology, INSERM, UMRS 974, Sorbonne Université, F-75013, Paris, France.

    Papers in Europe PMC
  7. 07
    Bonifacino JS1 paper · 2019

    Cell Biology and Neurobiology Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland 20892, USA; email: juan.bonifacino@nih.gov.

    Papers in Europe PMC
  8. 08
    Brill JA1 paper · 2019

    Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.

    Papers in Europe PMC
  9. 09
    Bucossi S1 paper · 2023

    Department of Laboratory Science, Research and Development Division, Fatebenefratelli Isola Tiberina-Gemelli Isola, 00186 Rome, Italy.

    Papers in Europe PMC
  10. 10
    Buono S1 paper · 2022

    Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR 7104, Université de Strasbourg, Illkirch, F-67404, 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 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 Fetal akinesia-cerebral and retinal hemorrhage 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.

("Fetal akinesia-cerebral and retinal hemorrhage syndrome" OR "LCCS5" OR "Lethal congenital contracture syndrome type 5") OR ("DNM2" OR "DNM2 syndrome" OR "DNM2-related")

Run this search on Europe PMC

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

"Fetal akinesia-cerebral and retinal hemorrhage syndrome" OR "LCCS5" OR "Lethal congenital contracture syndrome type 5"

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 (2591) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T14:34:00.759Z