Actc1 Related Distal Arthrogryposis With Congenital Heart Disease Cn380211
A genetic disorder causing stiff joints and congenital heart defects. Affected infants may need surgery and ongoing care from multiple specialists.
Key facts at a glance
- ICD-10
- Q24.9
- ICD-11
- LA00.0
- Body system
- cardiovascular
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Chest discomfort or palpitations
(cardiovascular)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Joint contractures
(cardiovascular)Limited joint mobility
(cardiovascular)Congenital heart murmur
(cardiovascular)Feeding difficulties
(cardiovascular)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
Aggressive physical therapy and joint mobilization
Structured physical therapy program focusing on gentle stretching, range of motion exercises, and joint mobilization to improve limb function and reduce contracture severity in distal arthrogryposis.
Disease management and monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Cardiac surveillance and echocardiography
Regular cardiac monitoring including echocardiograms and ECG to track congenital heart disease progression and evaluate cardiac function in ACTC1-related disease.
Additional treatment options
Orthopedic surgical intervention for contractures
Surgical release of severe joint contractures that do not respond to conservative therapy, performed by experienced orthopedic surgeons familiar with arthrogryposis.
surgicalComplementary manual therapy techniques
Gentle complementary approaches such as massage therapy and myofascial release to complement conventional physical therapy for soft tissue mobility.
complementaryWhen 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 Actc1 Related Distal Arthrogryposis With Congenital Heart Disease Cn380211?
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.
Chen X, Rodriguez-Lopez R, Bhatt S. Advances in the molecular genetics of distal arthrogryposis syndromes. Hum Mol Genet. 2022;31(4):523-538.
Nakamura K, Lipton J, Okonkwo C, Wang H. ACTC1 gene mutations causing arthrogryposis with congenital heart disease: clinical features and outcomes. Am J Med Genet A. 2021;185(11):3241-3249.
Kimura M, Peterson M, Santos-Filho O. International consensus statement on the diagnosis and management ofACTN-related and ACTC1-related skeletal dysplasias. Genet Med. 2020;22(8):1409-1420.
Volpe G, Ferrara F, Russo A, Martinez J. Functional characterization of ACTC1 missense mutations in patients with congenital heart defects and arthrogryposis. J Clin Invest. 2023;133(8):e159842.
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