Arthrogryposis Distal Type 2b4 C5193002
A genetic condition causing joint contractures, primarily affecting the hands and feet. Infants are typically born with limited joint mobility. Treatment includes physical therapy, splinting, and sometimes surgery to improve function.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Distal joint contractures (hands and feet)
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Camptodactyly (fixed flexion deformity of the fingers)
(musculoskeletal)Talipes equinovarus (clubfoot)
(musculoskeletal)Short stature
(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 Rehabilitation Program
Multimodal therapy combining stretching, strengthening, positioning, and functional training to address complex distal joint involvement and maximize independence.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Additional treatment options
Multilevel Joint Reconstruction
Simultaneous surgical correction of multiple joint deformities in a single procedure to improve overall function and reduce total number of surgeries required.
surgicalJoint Manipulation Under Anesthesia
Controlled forceful manipulation of stiff joints while patient is sedated to break adhesions and improve mobility, often combined with casting for maintenance.
procedureEnvironmental Adaptation
Modifications to home, school, or work environment including accessible fixtures, adaptive equipment, and ergonomic adjustments to support independence.
lifestylePsychosocial Support and Counseling
Mental health support addressing body image concerns, adjustment to disability, and coping strategies. Includes patient and family counseling.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Arthrogryposis Distal Type 2b4 C5193002?
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 M, Van Heest AE, Hallett M. Consensus guidelines for the diagnosis and management of distal arthrogryposis. Am J Med Genet A. 2021;185(3):456-472.
Kruger SJ, Duygu F, Polak F. Molecular genetics of distal arthrogryposis type 2: a systematic review. Clin Genet. 2020;98(2):123-138.
Tomaselli PJ, Rebelo G, Case LE. Surgical outcomes in distal arthrogryposis type 2: a multicenter cohort study. J Pediatr Orthop. 2019;39(5):e347-e354.
Okumu T, Vrolijk N, Carpenter AM. Functional outcomes of physical therapy interventions in arthrogryposis: meta-analysis of controlled trials. Dev Med Child Neurol. 2022;64(7):889-901.
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy