Overview
Fetal akinesia-cerebral and retinal hemorrhage syndrome is an extremely rare genetic condition that affects babies before birth and in the newborn period. The name describes its main features: fetal akinesia means reduced or absent movement of the baby in the womb, and the syndrome also involves bleeding (hemorrhage) in the brain and the retina (the light-sensing tissue at the back of the eye). This condition falls under a broader group of disorders known as fetal akinesia deformation sequences, where lack of fetal movement leads to a range of physical problems. Babies with this syndrome typically show very little movement during pregnancy, which can lead to joint contractures (joints that are stiff and fixed in position), underdeveloped lungs, and abnormal limb positioning. The brain and eye hemorrhages can cause severe neurological problems and vision impairment. Additional features may include muscle weakness or wasting, facial abnormalities, and growth restriction. Unfortunately, this condition is very severe, and there are currently no curative treatments available. Management is supportive and focuses on addressing individual symptoms as they arise. Because the condition is so rare, much of the medical understanding comes from a very small number of reported cases. Genetic counseling is strongly recommended for affected families to understand the risk of recurrence in future pregnancies.
Also known as:
Key symptoms:
Reduced or absent fetal movement during pregnancyBleeding in the brain (cerebral hemorrhage)Bleeding in the retina of the eyeJoint stiffness and contractures (arthrogryposis)Severe muscle weaknessUnderdeveloped lungs (pulmonary hypoplasia)Difficulty breathing at birthAbnormal facial featuresGrowth restriction before birthSwelling of the body (hydrops fetalis)Vision problems or blindnessSeizuresReduced muscle tone (floppy baby)
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Fetal akinesia-cerebral and retinal hemorrhage syndrome.
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Specialists
View all specialists →No specialists are currently listed for Fetal akinesia-cerebral and retinal hemorrhage syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Fetal akinesia-cerebral and retinal hemorrhage syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the specific genetic cause of my baby's condition, and can genetic testing confirm it?,What is the expected outlook for my baby, and what complications should we prepare for?,What supportive treatments are available to keep my baby comfortable?,Should we consider palliative care, and what does that involve?,What is the chance of this happening again in a future pregnancy?,Are there any research studies or clinical trials we could participate in?,Can you refer us to a genetic counselor to help us understand the inheritance pattern?
Common questions about Fetal akinesia-cerebral and retinal hemorrhage syndrome
What is Fetal akinesia-cerebral and retinal hemorrhage syndrome?
Fetal akinesia-cerebral and retinal hemorrhage syndrome is an extremely rare genetic condition that affects babies before birth and in the newborn period. The name describes its main features: fetal akinesia means reduced or absent movement of the baby in the womb, and the syndrome also involves bleeding (hemorrhage) in the brain and the retina (the light-sensing tissue at the back of the eye). This condition falls under a broader group of disorders known as fetal akinesia deformation sequences, where lack of fetal movement leads to a range of physical problems. Babies with this syndrome typi
How is Fetal akinesia-cerebral and retinal hemorrhage syndrome inherited?
Fetal akinesia-cerebral and retinal hemorrhage syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Fetal akinesia-cerebral and retinal hemorrhage syndrome typically begin?
Typical onset of Fetal akinesia-cerebral and retinal hemorrhage syndrome is neonatal. Age of onset can vary across affected individuals.