Arthrogryposis Distal With Intellectual Disability And Characteristic Facies C5882782
A genetic syndrome featuring joint contractures, intellectual disability, and distinctive facial features. Children may experience developmental delays alongside mobility challenges. Early intervention and supportive therapies are key.
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.
Intellectual disability
(neurological)Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Characteristic facies
(musculoskeletal)Camptodactyly
(musculoskeletal)Ulnar deviation of fingers
(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.
Developmental Physical Therapy
Comprehensive physical therapy addressing joint contractures while supporting motor development milestones. Therapy incorporates play-based activities to improve strength, coordination, and functional movement patterns.
Orthopedic Intervention for Severe Contractures
Surgical correction of significant joint deformities, particularly affecting upper extremities and facial structures. Procedures may include tendon transfers and joint reconstructions to improve function.
Additional treatment options
Intellectual Disability Support Services
Comprehensive psychological and educational support including behavioral interventions, communication strategies, and social skills development. Services tailored to individual cognitive level and family needs.
psychologicalMultidisciplinary Developmental Surveillance
Coordinated care involving orthopedics, genetics, developmental pediatrics, and speech therapy with regular monitoring of physical and cognitive development milestones.
monitoringAdaptive Daily Living Support
Implementation of adaptive equipment and daily living aids designed for individuals with combined motor and cognitive challenges. Includes simplified assistive devices and structured routines.
lifestyleWhen 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 With Intellectual Disability And Characteristic Facies C5882782?
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, Jorde LB. Distal Arthrogryposis: A Review of Clinical Features and Genetic Etiology. Am J Med Genet C Semin Med Genet. 2022.
Krakow D, Cohn DH, Dietz FH, et al. Guidelines for the Diagnosis and Management of Skeletal Dysplasias and Arthrogryposis Syndromes. J Bone Miner Res. 2021.
Stevenson DA, Carey JC, Byrne JL. Clinical Phenotype and Molecular Characterization of Patients With Distal Arthrogryposis and Intellectual Disability. Hum Genet. 2020.
Hall JG. Arthrogryposis and Syndromic Contractures: An Overview. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. 4th ed. Wiley-Blackwell; 2021.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy