fetal akinesia-cerebral and retinal hemorrhage syndrome
Findings
No curated finding names fetal akinesia-cerebral and retinal hemorrhage syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0014149), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset
HPO, annotations 2026-09-02
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased fetal movementHPOHP:0001558
- 3 of 3 reported patients
- Decreased nerve conduction velocityHPOHP:0000762
- 2 of 2 reported patients
- Flexion contractureHPOHP:0001371
- 3 of 3 reported patients · Congenital onset
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients · Congenital onset
- PolyhydramniosHPOHP:0001561
- 3 of 3 reported patients
- Respiratory insufficiency
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DNM2HGNC:2974
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: fetal akinesia-cerebral and retinal hemorrhage syndrome
- Also called
- lethal congenital contracture syndrome type 5