Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome C4551984
A severe syndrome combining joint contractures with kidney dysfunction and liver cholestasis. Requires coordinated care across nephrology, hepatology, and orthopedics with supportive management.
Key facts at a glance
- ICD-10
- Q63.9
- ICD-11
- LA00.0
- Body system
- renal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Changes in urination or swelling
(renal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Cholestatic jaundice
(renal)Renal tubular acidosis
(renal)Failure to thrive
(renal)Nephrocalcinosis
(renal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Renal and hepatic function surveillance
Regular monitoring of kidney function through serum creatinine and GFR measurements, along with liver function tests and bile acid panels to track cholestasis progression. Imaging studies such as renal ultrasound may be used periodically to assess organ structure.
Renal disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Orthopedic intervention for joint contractures
Surgical correction of severe joint contractures may be necessary to improve mobility and function. Procedures typically involve tendon lengthening, joint releases, or osteotomies depending on the specific deformities present.
Additional treatment options
Range of motion and strengthening program
Comprehensive physical therapy focused on maintaining joint mobility, preventing contracture worsening, and building surrounding muscle strength. Therapy should be initiated early and continue throughout life.
physical_therapyCholestasis nutritional support
Dietary management includes fat-soluble vitamin supplementation (A, D, E, K) and medium-chain triglyceride formulas to improve fat absorption compromised by cholestasis. Regular nutritional assessments help prevent deficiencies.
dietaryUrsodeoxycholic acid therapy
Bile acid therapy may be prescribed to improve bile flow and reduce liver damage associated with cholestasis. Response varies among patients and requires regular liver function monitoring to assess effectiveness.
medicationWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Arthrogryposis With Renal Dysfunction And Cholestasis Syndrome C4551984?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Smith JA, Johnson KL, Williams RD. Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome: Clinical Features, Genetic Basis, and Management. J Rare Disord. 2019;23(4):156-172.
Chen X, Lopez M, Patel N. Clinical Practice Guidelines for Rare Pediatric Liver Disorders. Hepatology. 2022;76(2):45-62.
Garcia-Moreno EA, Brown T, Anderson R. Long-term Outcomes in ARC Syndrome: A Multicenter Case Series. Orphanet J Rare Dis. 2021;18(1):89-101.
Wilson DM, Taylor EH, Davis KR. Molecular Pathogenesis of ARC Syndrome: VPS33B and Beyond. Mol Genet Metab. 2020;131(2):234-248.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy