Living with Arthrogryposis with renal dysfunction and cholestasis syndrome
A rare condition present from birth with stiff joints, kidney tube problems, and liver bile flow problems.
Understanding Arthrogryposis with renal dysfunction and cholestasis syndrome
It involves joint contractures from nerve causes, a problem with how the kidney tubes work (renal tubular dysfunction), and slowed bile flow in the liver in newborns (neonatal cholestasis). Other features include skin changes, platelet problems, chronic diarrhea, and recurrent infections.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Stiff, bent joints from birth (arthrogryposis)
- Kidney tube dysfunction
- Slowed bile flow in newborns (cholestasis)
- Enlarged liver
- Poor weight gain in infancy
- Dry, scaly skin (ichthyosis)
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 bone and joint 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.
- 4Connect with expert centers
Arthrogryposis Multiplex Congenita Support Inc. and Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: Arthrogryposis Multiplex Congenita Support Inc., Foundation for Ichthyosis and Related Skin Types
- 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 Arthrogryposis Multiplex Congenita Support Inc. 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, meaning a child inherits a changed copy of the gene from each parent.
Also known as: arc (arthrogryposis, renal dysfunction, cholestasis) syndrome; arc syndrome; arthrogryposis-renal dysfunction-cholestasis; arthrogryposis-renal dysfunction-cholestasis syndrome; arthrogryposis, renal dysfunction and cholestasis (arc) syndrome; arthrogryposis, renal dysfunction, and cholestasis
Patient organizations
- Arthrogryposis Multiplex Congenita Support Inc.Arthrogryposis with renal dysfunction and cholestasis syndrome · United States
- Foundation for Ichthyosis and Related Skin TypesIchthyosis · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Arthrogryposis with renal dysfunction and cholestasis syndrome.
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