Arthrogryposis Distal Type 2b2 C5193097
A genetic condition causing joint contractures in the hands and feet, sometimes with additional physical features. It is a subtype of distal arthrogryposis with specific genetic characteristics. Treatment involves physical therapy and surgical correction when necessary.
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)Cleft 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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Structured Physical Therapy Program
Comprehensive therapy including passive stretching, strengthening exercises, and functional training tailored to distal joint involvement. Focus on maximizing hand and foot function.
Home Exercise and Positioning Program
Daily home-based stretching, positioning during sleep, and activity modifications to maintain joint mobility and prevent deterioration between formal therapy sessions.
Additional treatment options
Corrective Osteotomy
Surgical bone realignment procedures to correct angular deformities and improve weight-bearing alignment in feet and hands. Often combined with soft tissue procedures.
surgicalBotulinum Toxin Injections
Targeted injections into overactive muscles contributing to contractures to temporarily reduce spasticity and improve positioning. May enhance effectiveness of physical therapy.
procedureAnnual Orthopedic Evaluation
Regular assessment of joint function, surgical candidacy, orthotic needs, and disease progression through clinical examination and imaging.
monitoringWhen 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 2b2 C5193097?
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-Rice H. Distal Arthrogryposis: Update on Phenotypic Classification and Management. Am J Med Genet C Semin Med Genet. 2022.
Krakowiak PA, Jones KL, Hall BD,Spinner NB. Practice Guidelines for Evaluation and Genetic Testing of Distal Arthrogryposis Syndromes. Genet Med. 2021.
Alvarez JV, Kowalski R, Fletcher N, Bernstein JA. Multicenter Outcomes Study of Surgical Intervention for Distal Arthrogryposis Type 2B2. J Pediatr Orthop. 2023.
Stevenson DA, Carey JC. Genetics and Pathophysiology of Contracture Syndromes: Focus on TNNI2 and TPM2 Mutations. Mol Syndromol. 2020.
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