Living with Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
A rare genetic condition with severe slow growth, intellectual disability, low muscle tone, and liver problems starting in the newborn period.
Understanding Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
Features include severe slow growth before and after birth, moderate to severe intellectual disability, and liver disease in newborns with scarring (fibrosis), fat buildup (steatosis), and/or reduced bile flow (cholestasis), occasionally leading to liver failure. Other features vary and can include low muscle tone, zinc deficiency, repeated infections, diabetes, joint contractures, loose skin and joints, high vitamin D, and hearing loss from the inner ear.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Severe slow growth
- Intellectual disability and absent speech
- Global developmental delay
- Low muscle tone (hypotonia)
- Liver scarring and reduced bile flow
- Repeated infections
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, digestive system specialists and genetic specialists.
- 3Consider genetic testing
Changes in IARS1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the IARS1 gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: gridhh; growth delay-intellectual disability-hepatopathy syndrome; growth retardation, impaired intellectual development, hypotonia, and hepatopathy; growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy; gridhh
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy.
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