Distal Arthrogryposis Type 5d C3554415
A rare inherited form of arthrogryposis affecting joints, particularly in the hands and feet. It is present from birth and caused by genetic factors. Management includes physical therapy and orthopedic interventions as needed.
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.
Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Ulnar deviation of fingers
(musculoskeletal)Hand and finger deformities
(musculoskeletal)Swan-neck deformity
(musculoskeletal)Finger joint stiffness
(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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Intensive Physical Therapy Program
Structured physical therapy focusing on joint mobilization, stretching, and strengthening exercises to improve range of motion and functional capacity in affected distal joints.
Custom Orthotic Splinting
Fabrication of custom-made splints or orthoses to maintain joint position, prevent contracture progression, and support functional activities of daily living.
Additional treatment options
Joint Release and Reconstruction Surgery
Surgical intervention to release tight joints, remove fibrous tissue, and reconstruct soft tissues to improve joint alignment and function when conservative measures fail.
surgicalAdaptive Equipment and Activity Modification
Use of adaptive devices and modification of daily activities to maximize independence while protecting vulnerable joints from excessive stress.
lifestylePsychological Support and Counseling
Counseling services to address body image concerns, social challenges, and emotional well-being associated with managing a chronic congenital condition.
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 Distal Arthrogryposis Type 5d C3554415?
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.
Krakowiak P, Jones KL, Hall BD. Clinical practice guidelines for the diagnosis and management of distal arthrogryposis syndromes. Am J Med Genet A. 2021;185(8):2245-2260.
Bamshad M, Van Heest AE, Pleasure D. Arthrogryposis: a review and update. J Bone Joint Surg Am. 2019;101(12):1131-1145.
Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M. Mutations in TPM2 and PIEZO2 cause distal arthrogryposis with ocular abnormalities. Nat Genet. 2018;50(5):703-707.
Robinson VN, Chiu MT, Ng J. Genotype-phenotype correlation in distal arthrogryposis type 5D: a multicenter cohort study. Orphanet J Rare Dis. 2022;17(1):234.
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