Overview
Retinohepatoendocrinologic syndrome, also known as Edwards syndrome (not to be confused with Trisomy 18), or sometimes referred to as retinal-hepatic-endocrine syndrome, is an extremely rare inherited condition that affects multiple body systems at the same time. The three main areas involved are the eyes (retina), the liver (hepatic system), and the hormone-producing glands (endocrine system). Patients typically experience progressive vision problems due to changes in the retina, which is the light-sensing tissue at the back of the eye. Liver involvement can range from mild abnormalities in liver function tests to more significant liver disease. The endocrine problems may include diabetes mellitus, thyroid dysfunction, or other hormonal imbalances. Because this syndrome affects several organ systems, patients often need care from multiple specialists working together. The condition was first described in a small number of families, and very little published medical literature exists about it. Treatment is mainly supportive and focused on managing each individual symptom. There is currently no cure or specific targeted therapy for this syndrome. Regular monitoring of vision, liver function, and hormone levels is essential to catch and manage complications early.
Key symptoms:
Progressive vision lossRetinal degeneration (damage to the light-sensing layer of the eye)Abnormal liver functionLiver enlargementDiabetes or high blood sugarThyroid problemsHormonal imbalancesNight blindnessFatigueGrowth problems in childrenDelayed puberty
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Retinohepatoendocrinologic syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Retinohepatoendocrinologic syndrome at this time.
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Specialists
View all specialists →No specialists are currently listed for Retinohepatoendocrinologic 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 Retinohepatoendocrinologic syndrome.
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.How will each of my affected organ systems be monitored over time?,What signs or symptoms should prompt me to seek urgent medical care?,Is genetic testing available that could help confirm the diagnosis or identify the cause?,Are there any clinical trials or research studies I could participate in?,What support services are available for progressive vision loss?,How should my diabetes or other hormonal issues be managed alongside my liver condition?,Should my family members be tested or screened for this condition?
Common questions about Retinohepatoendocrinologic syndrome
What is Retinohepatoendocrinologic syndrome?
Retinohepatoendocrinologic syndrome, also known as Edwards syndrome (not to be confused with Trisomy 18), or sometimes referred to as retinal-hepatic-endocrine syndrome, is an extremely rare inherited condition that affects multiple body systems at the same time. The three main areas involved are the eyes (retina), the liver (hepatic system), and the hormone-producing glands (endocrine system). Patients typically experience progressive vision problems due to changes in the retina, which is the light-sensing tissue at the back of the eye. Liver involvement can range from mild abnormalities in l
How is Retinohepatoendocrinologic syndrome inherited?
Retinohepatoendocrinologic syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Retinohepatoendocrinologic syndrome typically begin?
Typical onset of Retinohepatoendocrinologic syndrome is childhood. Age of onset can vary across affected individuals.