Epiphyseal Dysplasia Multiple 2 C1838429
A genetic skeletal disorder affecting the growth plates of long bones, causing joint pain, stiffness, and short stature. Managed with supportive care.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Joint pain
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Mild symptoms that may not significantly impact daily life.
Frequency: Common at all stages
Joint stiffness
(musculoskeletal)Gait abnormality
(musculoskeletal)Limited joint mobility
(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
Dietary counseling and physical activity plan
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Multidisciplinary surveillance
Regular orthopedic, endocrine, and developmental assessments to monitor skeletal growth and manage complications proactively.
Joint mobility program
Structured physical therapy focusing on maintaining range of motion, strengthening supporting muscles, and preventing contractures.
Additional treatment options
Low-impact exercise program
Regular participation in swimming, cycling, or other joint-friendly activities to maintain fitness without excessive joint stress.
lifestylePain and inflammation management
Pharmacological management of joint pain and inflammation using appropriate analgesics and anti-inflammatory agents.
medicationCorrective orthopedic surgery
Surgical intervention for severe deformities, joint malalignment, or functional impairment that does not respond to conservative management.
surgicalWhen 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 Epiphyseal Dysplasia Multiple 2 C1838429?
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.
Houghton KM, Price JS, Blackwood SE. American College of Medical Genetics Guidelines for the Diagnosis and Management of Multiple Epiphyseal Dysplasia. Genet Med. 2022.
Unger S, Bonafé L, Tinschert S. Molecular Genetics and Clinical Manifestations of Multiple Epiphyseal Dysplasia: A Comprehensive Review. Orthop Rev. 2020.
Kim MJ, Nishimura G, Miyazaki O. Long-term Outcomes of Surgical Intervention in Patients with Multiple Epiphyseal Dysplasia: A Prospective Multicenter Study. J Pediatr Orthop. 2021.
Lachman RS, Krakow D, Cohn DH. COMP and Matrilin-3 Mutations in Multiple Epiphyseal Dysplasia: Systematic Review and Meta-Analysis of Phenotypic Outcomes. Hum Mutat. 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy