Living with Hepatic fibrosis-renal cysts-intellectual disability syndrome
A rare syndrome with slow development, scarring of the liver, kidney cysts, and intellectual disability.
Understanding Hepatic fibrosis-renal cysts-intellectual disability syndrome
It begins in the newborn period or infancy. Features include slow growth, intellectual disability, scarring of the liver present from birth (congenital hepatic fibrosis), and kidney differences (renal cystic dysplasia). Facial features can include drooping eyelids, a high arched palate, and a small jaw. Some people have extra fingers or toes, or brain differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Liver scarring present from birth
- Kidney cysts
- Drooping upper eyelid (ptosis)
- Crossed eyes (strabismus)
- Fast, rhythmic eye movements (nystagmus)
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, genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- 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 National Kidney Foundation and other patient organizations
- 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
GARD says changes in genes (also called variants) cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome; thompson baraitser syndrome; thompson-baraitser syndrome
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Hepatic fibrosis-renal cysts-intellectual disability syndrome.
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