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fetal akinesia-cerebral and retinal hemorrhage syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

fetal akinesia-cerebral and retinal hemorrhage syndrome

MONDO:0014149

Also known as:lethal congenital contracture syndrome type 5LCCS5lethal congenital contracture syndrome 5

Overview

A rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia 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.

GeneticsAutosomal recessive · DNM2 (chr 19)

OnsetCONGENITAL

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Polyhydramnios, Retinal hemorrhage, Flexion contracture, and Low muscle tone (hypotonia) and others; and common findings: Centrally nucleated skeletal muscle fibers, Areflexia, EEG with burst suppression, and Subdural hemorrhage. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5	Centrally nucleated skeletal muscle fibers, Flexion contracture, Low muscle tone (hypotonia)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

DNM2 encodes dynamin 2 (870 aa). Catalyzes the hydrolysis of GTP and utilizes this energy to mediate vesicle scission at plasma membrane during endocytosis and filament remodeling at many actin structures during organization of the actin cytoskeleton. Highest expression in Lung (107.7 TPM) and Skin Sun Exposed Lower leg (97.2 TPM).

Fetal akinesia-cerebral and retinal hemorrhage syndrome is associated with mutations in the DNM2 gene on chromosome 19.

DNM2 is classified as a druggable target (Clinically Actionable, Enzyme, and Transporter categories) with score 4.4.

Diagnosis

Genetic testing for DNM2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 9 always present features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for fetal akinesia-cerebral and retinal hemorrhage syndrome.

6 publications have been identified in PubMed for fetal akinesia-cerebral and retinal hemorrhage syndrome. Research spans Case Report / Case Series (80%) and Review / Meta-Analysis (20%).

Recent Publications

Jayanna S (2026). [PMID: 41930014](https://pubmed.ncbi.nlm.nih.gov/41930014/). *Oman J Ophthalmol*. [Case Report / Case Series]
Ramirez DA (2025). [PMID: 38109746](https://pubmed.ncbi.nlm.nih.gov/38109746/). *Retin Cases Brief Rep*. [Case Report / Case Series]
Haliloğlu G (2025). [PMID: 40356365](https://pubmed.ncbi.nlm.nih.gov/40356365/). *J Neuromuscul Dis*. [Review / Meta-Analysis]
McAdam A (2025). [PMID: 39713852](https://pubmed.ncbi.nlm.nih.gov/39713852/). *Am J Med Genet A*. [Case Report / Case Series]
Grist J (2024). [PMID: 38965877](https://pubmed.ncbi.nlm.nih.gov/38965877/). *Pediatr Dermatol*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 11:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615368

Orphanet

European rare disease database

Orphanet:363409

GARD

Genetic and Rare Diseases Info Center

GARD:17553

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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fetal akinesia-cerebral and retinal hemorrhage syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

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