ORPHA:363409
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Also known as: LCCS5 · Lethal congenital contracture syndrome type 5
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
14
28.7th percentile
Trials
0
Interventional, condition-specific
Researchers
92
Distinct authors in sample
Gene link
DNM2
Limited
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014149
- OMIM:615368
- UMLS:C4706410
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.”
2/6 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.
- Gene identifiedPresent
Limited — DNM2
- LiteraturePresent
14 matched papers (11 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
14
14 papers have ever been indexed 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.
14 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).
11 in the last 10 years · high confidence · 28.7th percentile (publications denominator)
Phrase hits: 14 · MeSH hits: 0
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.
- 01Agger 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 - 02Al-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 - 03Al-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 - 04Alkuraya 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 - 05Antoun S1 paper · 2020
Pediatrics Department, Hôtel-Dieu de France, Beirut, Lebanon.
Papers in Europe PMC - 06Bitoun M1 paper · 2022
Institute of Myology, Centre of Research in Myology, INSERM, UMRS 974, Sorbonne Université, F-75013, Paris, France.
Papers in Europe PMC - 07Bonifacino 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 - 08Brill JA1 paper · 2019
Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.
Papers in Europe PMC - 09Bucossi S1 paper · 2023
Department of Laboratory Science, Research and Development Division, Fatebenefratelli Isola Tiberina-Gemelli Isola, 00186 Rome, Italy.
Papers in Europe PMC - 10Buono 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
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 2026-07-26This 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"
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" OR "DNM2"
Recall-expansion terms: DNM2
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-27T14:34:00.759Z