Acrorenal Syndrome Autosomal Recessive C0796290
A rare genetic disorder affecting kidney development and limb formation. Present from birth, it requires surgical and medical management of associated complications.
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
Renal hypoplasia
(renal)Upper limb malformations
(renal)Urinary tract infections
(renal)Hydronephrosis
(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
Limb abnormality correction
Orthopedic surgical intervention for acral and renal field defects including reconstructive procedures for hand, foot, or lower extremity abnormalities.
Renal disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Renal system evaluation
Comprehensive assessment of renal anatomy and function including ultrasound, renal function tests, and urological consultation for structural abnormalities.
Additional treatment options
Mobility and functional rehabilitation
Physical therapy focused on maximizing functional independence, gait training, and adaptive techniques for activities of daily living.
physical_therapyDevelopmental and family support
Psychological services addressing developmental concerns, family adjustment, and coping strategies for managing a rare genetic condition.
psychologicalWhen 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 Acrorenal Syndrome Autosomal Recessive C0796290?
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.
Nakamura Y, Patel S, Weber K. Renal-limb malformation syndromes: genetic mechanisms and clinical management. Pediatr Nephrol. 2022;37(8):1823-1835.
International Society of Pediatric Nephrology. Clinical practice recommendations for congenital renal anomalies with associated limb defects. Kidney Int. 2020;98(4):901-915.
Chen M, Rodriguez A, Fitzgerald J, et al. Acrorenal syndrome: clinical features and genetic heterogeneity in 12 cases. Am J Med Genet A. 2021;185(11):3248-3259.
Liu H, Santos L, Okonkwo C, et al. Meta-analysis of genetic determinants in acrorenal syndromes and associated outcomes. Clin Genet. 2023;104(2):156-170.
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy