Metaphyseal Chondrodysplasia Jansen Type C0265295
A rare genetic skeletal disorder causing abnormal bone development and short stature, appearing in infancy. Management focuses on treating bone-related complications and supporting growth.
Key facts at a glance
- ICD-10
- Q79.9
- ICD-11
- LA00.0
- Body system
- musculoskeletal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
short stature
(musculoskeletal)metaphyseal abnormalities of long bones
(musculoskeletal)joint contractures
(musculoskeletal)abnormal bone development
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Orthopedic Surgical Intervention
Surgical correction of skeletal deformities including limb realignment procedures, joint reconstruction, and management of bone lesions characteristic of Jansen metaphyseal chondrodysplasia.
Growth and Endocrine Monitoring
Regular assessment of growth parameters, bone age, calcium-phosphorus metabolism, and endocrine function to manage hypercalcemia and metabolic complications.
Additional treatment options
Hypercalcemia Management
Pharmacologic management of hypercalcemia through hydration, dietary calcium restriction, and medications such as bisphosphonates when indicated.
medicationMobility and Joint Function Therapy
Physical therapy focusing on maintaining joint range of motion, muscle strength, and functional mobility despite skeletal abnormalities.
physical_therapyDevelopmental and Psychosocial Support
Developmental pediatrics and psychology services to address potential learning challenges, self-esteem concerns, and social adjustment related to short stature and physical differences.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Metaphyseal Chondrodysplasia Jansen Type C0265295?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Metaphyseal Chondrodysplasia Jansen Type C0265295. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy