Overview
Zellweger-like syndrome without peroxisomal anomalies is a very rare genetic condition that closely resembles Zellweger syndrome in its symptoms but is different in one important way: the tiny cell structures called peroxisomes appear normal under testing. In classic Zellweger syndrome, peroxisomes are broken or missing. In this condition, peroxisomes look fine, yet the person still shows many of the same serious problems. This makes diagnosis especially challenging. The condition mainly affects the brain, liver, and overall development. Babies born with this syndrome often have very low muscle tone (called hypotonia), making them feel floppy. They may have seizures, feeding difficulties, and abnormal facial features. The brain may not develop properly, leading to significant intellectual disability and developmental delays. The liver can also be affected, causing abnormal liver function. There is currently no cure for this condition. Treatment focuses on managing symptoms, supporting development, and improving quality of life. This includes anti-seizure medications, feeding support, physical therapy, and regular monitoring of organ function. Because so few cases have been reported, much about this disease is still being studied and understood.
Also known as:
Key symptoms:
Very low muscle tone (floppy baby appearance)Seizures or epilepsyIntellectual disabilityDelayed development of motor and cognitive skillsAbnormal facial features (such as a high forehead, wide-set eyes, or a flat face)Liver problems or abnormal liver functionFeeding difficulties in infancyPoor weight gain and growthHearing lossVision problems
Clinical phenotype terms (22)— hover any for plain English
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 Zellweger-like syndrome without peroxisomal anomalies.
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Specialists
View all specialists →No specialists are currently listed for Zellweger-like syndrome without peroxisomal anomalies.
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 Zellweger-like syndrome without peroxisomal anomalies.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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 genetic tests should we do to confirm this diagnosis and find the specific gene involved?,What specialists should be part of our care team, and how often should we see each one?,What is the best plan for managing my child's seizures, and what should we do in an emergency?,Are there any clinical trials or research studies we could participate in?,What therapies (physical, occupational, speech) would benefit my child most right now?,How should we monitor my child's liver health over time?,What support resources are available for our family as caregivers?
Common questions about Zellweger-like syndrome without peroxisomal anomalies
What is Zellweger-like syndrome without peroxisomal anomalies?
Zellweger-like syndrome without peroxisomal anomalies is a very rare genetic condition that closely resembles Zellweger syndrome in its symptoms but is different in one important way: the tiny cell structures called peroxisomes appear normal under testing. In classic Zellweger syndrome, peroxisomes are broken or missing. In this condition, peroxisomes look fine, yet the person still shows many of the same serious problems. This makes diagnosis especially challenging. The condition mainly affects the brain, liver, and overall development. Babies born with this syndrome often have very low musc
How is Zellweger-like syndrome without peroxisomal anomalies inherited?
Zellweger-like syndrome without peroxisomal anomalies follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Zellweger-like syndrome without peroxisomal anomalies typically begin?
Typical onset of Zellweger-like syndrome without peroxisomal anomalies is neonatal. Age of onset can vary across affected individuals.