Overview
Growth delay-intellectual disability-hepatopathy syndrome is a rare genetic condition that affects multiple parts of the body, most notably causing slow growth, learning and developmental challenges, and liver problems. The syndrome is sometimes referred to by its shorthand initials or described as a combined metabolic and developmental disorder. Children with this condition often grow more slowly than their peers, reach developmental milestones later than expected, and may have varying degrees of intellectual disability ranging from mild to more significant. The liver (hepatopathy) involvement can range from mildly abnormal liver enzyme levels to more serious liver dysfunction, which requires careful monitoring over time. Because this syndrome affects several body systems at once, children typically need care from a team of specialists including geneticists, liver specialists, and developmental pediatricians. There is currently no cure for this condition, and treatment focuses on managing symptoms, supporting development through therapies, and monitoring liver health. Early diagnosis and a coordinated care plan can make a meaningful difference in quality of life and long-term outcomes for affected children and their families.
Key symptoms:
Slower than normal growth and short statureIntellectual disability or learning difficultiesDelayed developmental milestones such as sitting, walking, and talkingLiver disease or abnormal liver functionLow muscle tone (floppiness in infancy)Feeding difficulties in infancyAbnormal liver enzyme levels on blood testsEnlarged liver (hepatomegaly) in some casesSpeech and language delaysBehavioral challenges
Clinical phenotype terms (35)— hover any for plain English
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 delay-intellectual disability-hepatopathy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Growth delay-intellectual disability-hepatopathy 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 delay-intellectual disability-hepatopathy 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 specific changes were found in the NBAS gene, and what do they mean for my child's health?,How often should my child's liver function be tested, and what signs should prompt an urgent visit?,What should I do if my child gets a fever or becomes very ill — is there an emergency protocol I should follow?,What therapies (speech, occupational, physical) does my child need, and how do I access them?,Are there any dietary changes or restrictions that will help protect my child's liver?,What is the risk of this condition occurring in future pregnancies, and should other family members be tested?,Are there any clinical trials or research studies my child might be eligible to participate in?
Common questions about Growth delay-intellectual disability-hepatopathy syndrome
What is Growth delay-intellectual disability-hepatopathy syndrome?
Growth delay-intellectual disability-hepatopathy syndrome is a rare genetic condition that affects multiple parts of the body, most notably causing slow growth, learning and developmental challenges, and liver problems. The syndrome is sometimes referred to by its shorthand initials or described as a combined metabolic and developmental disorder. Children with this condition often grow more slowly than their peers, reach developmental milestones later than expected, and may have varying degrees of intellectual disability ranging from mild to more significant. The liver (hepatopathy) involvemen
How is Growth delay-intellectual disability-hepatopathy syndrome inherited?
Growth delay-intellectual disability-hepatopathy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Growth delay-intellectual disability-hepatopathy syndrome typically begin?
Typical onset of Growth delay-intellectual disability-hepatopathy syndrome is infantile. Age of onset can vary across affected individuals.