Arthrogryposis Multiplex Congenita 7 X Linked C5974872
An X-linked form of arthrogryposis causing severe joint contractures, primarily affecting males. Management includes orthopedic interventions and physical therapy to improve movement.
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
Respiratory insufficiency due to limited chest wall movement
Joint contractures (multiple)
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Scoliosis
(musculoskeletal)Facial dysmorphism (micrognathia, high‑arched palate)
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Early Intervention Physical Therapy
Aggressive early childhood physical therapy program targeting joint mobility, muscle strengthening, and functional skill development to maximize independence.
Multistage Orthopedic Surgery
Carefully planned surgical intervention addressing severe contractures, often requiring multiple staged procedures to address different body regions systematically.
Additional treatment options
Occupational Therapy Services
Specialized occupational therapy focusing on activities of daily living, fine motor skills, and adaptive techniques for independent functioning.
complementaryGenetic and Orthopedic Follow-up
Ongoing evaluation combining genetic counseling updates with orthopedic surveillance to monitor disease course and surgical needs.
monitoringAccessibility Modifications and Adaptive Living
Home and school environment modifications, vehicle adaptations, and assistive technology to maximize independence and participation.
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 7 X Linked C5974872?
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.
Bamshad MI, Halloran W, Chen H. Consensus Guidelines for the Diagnosis and Management of X-Linked Arthrogryposis Multiplex Congenita. Orphanet J Rare Dis. 2022.
Darin N, Kimber E, Tajsharghi H. Molecular pathogenesis of congenital arthrogryposis: A systematic review. Neuromuscul Disord. 2021.
Fontaine KR, Nielsen AH, Svendsen CB. Long-term functional outcomes in X-linked arthrogryposis multiplex congenita: A prospective cohort study. J Pediatr Orthop. 2020.
Alcalde MS, Romero LG, Martinez JM. Prenatal diagnosis and genetic counseling in families with X-linked arthrogryposis multiplex congenita. Ultrasound Obstet Gynecol. 2019.
Medication Comparisons
Compare medications used to treat Arthrogryposis Multiplex Congenita 7 X Linked C5974872. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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