Overview
Growth retardation-mild developmental delay-chronic hepatitis syndrome is an extremely rare genetic condition that affects multiple body systems, primarily involving the liver, growth, and brain development. Children with this syndrome typically show slower-than-expected growth (short stature), mild delays in reaching developmental milestones such as walking and talking, and chronic inflammation of the liver (hepatitis). The chronic hepatitis component means the liver is persistently inflamed, which can affect its ability to function properly over time. This inflammation is not caused by a virus but rather by the underlying genetic condition itself. Because this syndrome is so rare, the medical understanding of it is still limited. Affected children may present in infancy or early childhood with poor weight gain, failure to thrive, and abnormal liver function tests found on routine blood work. Developmental delays are generally described as mild, meaning most children can learn and develop skills but may do so at a slower pace than their peers. There is currently no cure for this condition. Treatment is mainly supportive and focuses on managing each symptom individually. This may include nutritional support to help with growth, early intervention therapies such as speech and occupational therapy for developmental delays, and monitoring and treatment of liver disease by a hepatologist. Regular follow-up with multiple specialists is important to track the progression of symptoms and adjust care as needed.
Key symptoms:
Short stature or poor growthFailure to thrive in infancyLow body weight for ageMild delays in learning and developmentChronic liver inflammation (hepatitis)Abnormal liver function blood testsEnlarged liverDelayed speech developmentDelayed motor milestonesFatigue or low energyPoor appetitePossible jaundice (yellowing of skin or eyes)
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Growth retardation-mild developmental delay-chronic hepatitis syndrome.
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Specialists
View all specialists →No specialists are currently listed for Growth retardation-mild developmental delay-chronic hepatitis 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 Growth retardation-mild developmental delay-chronic hepatitis 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.What is the current state of my child's liver health, and how often should liver function be tested?,Are there any specific dietary recommendations to support growth and protect the liver?,Should my child be evaluated for growth hormone therapy?,What early intervention therapies do you recommend for my child's developmental delays?,Is genetic testing available to confirm the diagnosis, and should other family members be tested?,What signs of liver disease progression should I watch for at home?,Are there any clinical trials or research studies my child might be eligible for?
Common questions about Growth retardation-mild developmental delay-chronic hepatitis syndrome
What is Growth retardation-mild developmental delay-chronic hepatitis syndrome?
Growth retardation-mild developmental delay-chronic hepatitis syndrome is an extremely rare genetic condition that affects multiple body systems, primarily involving the liver, growth, and brain development. Children with this syndrome typically show slower-than-expected growth (short stature), mild delays in reaching developmental milestones such as walking and talking, and chronic inflammation of the liver (hepatitis). The chronic hepatitis component means the liver is persistently inflamed, which can affect its ability to function properly over time. This inflammation is not caused by a vir
How is Growth retardation-mild developmental delay-chronic hepatitis syndrome inherited?
Growth retardation-mild developmental delay-chronic hepatitis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Growth retardation-mild developmental delay-chronic hepatitis syndrome typically begin?
Typical onset of Growth retardation-mild developmental delay-chronic hepatitis syndrome is infantile. Age of onset can vary across affected individuals.