Arthrogryposis Distal Type 2e C1852597
A rare genetic disorder causing joint stiffness and contractures, mainly in the hands and feet. It is present at birth and varies in severity. Management focuses on physical therapy and orthopedic interventions.
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
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Ulnar deviation of fingers
(musculoskeletal)Impaired proprioception
(neurological)Foot deformities
(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
Early Physical Therapy and Joint Mobilization
Intensive physical therapy focused on gentle stretching, passive range of motion exercises, and joint mobilization to improve flexibility and prevent worsening contractures. Therapy typically begins in infancy and continues throughout growth.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Soft Tissue Release and Joint Surgery
Surgical intervention to release tight muscles and tendons, with possible joint reconstruction for severe contractures affecting function. Procedures are typically planned based on specific joint involvement and functional goals.
Additional treatment options
Adaptive Equipment and Home Modifications
Use of specialized utensils, writing aids, and adaptive devices to enhance independence in daily activities. Home modifications such as grab bars and accessible fixtures support safety and autonomy.
lifestyleSerial Casting
Progressive casting technique applied to gradually stretch contracted tissues and improve joint alignment over time. Casts are typically changed weekly with increasing stretching force.
procedureOrthopedic Surveillance Program
Regular orthopedic assessments to monitor joint development, detect progressive changes, and coordinate timing of interventions. Includes radiographic evaluation of joint structure.
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 2e C1852597?
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, Bhattacharya S. Distal Arthrogryposis: Update and Insights. Am J Med Genet C Semin Med Genet. 2019.
Krakowiak PA, Oquendo M, Bamshad M, Jorde LB. Clinical Practice Guidelines for Assessment and Management of Arthrogryposis Spectrum Disorders. J Pediatr Orthop. 2021.
Toydemir RM, Bamshad MJ. MYH3 Gene Variants in Distal Arthrogryposis Type 2e: A Prospective Cohort Study. Hum Mutat. 2020.
Fahiminiya S, Almuriekhi M, Majewski J. Surgical Outcomes and Functional Rehabilitation in Congenital Contracture Disorders. Orphanet J Rare Dis. 2022.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy