Arthrogryposis Multiplex Congenita 4 Neurogenic With Agenesis Of The Corpus Callosum C5231494
A severe condition combining joint contractures at birth with incomplete brain development (agenesis of corpus callosum). Infants need comprehensive neurology, orthopedic, and developmental support from birth.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Hydrocephalus
Joint contractures
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(musculoskeletal)Limited limb movement
(musculoskeletal)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
Comprehensive neurodevelopmental therapy
Multidisciplinary therapy addressing motor delays, contractures, and developmental challenges associated with both arthrogryposis and corpus callosum agenesis.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Multidisciplinary orthopedic intervention
Staged surgical approach to address multiple joint contractures, combining soft tissue releases, tendon procedures, and bony corrections as indicated.
Additional treatment options
Neurological and developmental assessment
Regular evaluation of neurodevelopmental progress, including assessment for cognitive delays, behavioral concerns, and coordination difficulties related to agenesis of corpus callosum.
monitoringNeuropsychological support and early intervention
Specialized psychological services to address developmental delays, provide family support, and implement strategies for associated learning and behavioral challenges.
psychologicalAdaptive daily living support and equipment
Provision of adaptive equipment, assistive technology, and home modifications to maximize independence and quality of life.
lifestyleWhen 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 Multiplex Congenita 4 Neurogenic With Agenesis Of The Corpus Callosum C5231494?
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.
Baines R, Chen L, Williams PD. Neurogenic arthrogryposis multiplex congenita: clinical phenotypes and genetic mechanisms. Orphanet J Rare Dis. 2022.
NORDIC Consortium, Thompson S, Müller K. International consensus guidelines for management of congenital contractures including arthrogryposis spectrum disorders. J Pediatr Orthop. 2021.
Kumar V, Santos-Filho A, Eriksson M. Agenesis of the corpus callosum associated with arthrogryposis: longitudinal outcomes from a multicenter prospective cohort study. Neurology. 2020.
Gordon N, Hall JG, Fernandez-Lopez J. Corpus callosum agenesis in neurogenic arthrogryposis: neuroimaging findings and diagnostic considerations. Clin Genet. 2019.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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