Autosomal Dominant Osteopetrosis 2 C3179239
A form of osteopetrosis caused by a dominant gene mutation. Bones become abnormally dense with risk of fractures. Management focuses on symptom relief.
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.
Bone pain
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Fracture susceptibility
(musculoskeletal)Cranial nerve palsy (facial)
(musculoskeletal)Anemia due to bone marrow expansion
(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.
Disease progression surveillance
Systematic monitoring of bone parameters, neurological function, and hematological parameters given the more aggressive phenotype of ADO2. Includes MRI for medullary cavity assessment and regular neurological examinations.
Surgical management of skeletal complications
Orthopedic surgery for pathologic fractures, avascular necrosis of femoral head, or spinal cord compression. May require specialized hardware and longer rehabilitation given altered bone biology.
Additional treatment options
Calcitriol therapy
Vitamin D metabolite supplementation that may stimulate osteoclast activity and improve bone remodeling in some patients. Requires careful monitoring of calcium levels to avoid hypercalcemia.
medicationNeurosurgical decompression
Emergency or planned decompression for spinal cord or nerve root compression from bone overgrowth. Often necessary for neurological preservation and pain control when conservative measures fail.
surgicalBone health optimization
Comprehensive approach including adequate calcium and vitamin D intake, weight-bearing exercise as tolerated, and avoidance of bone-harmful medications. May provide modest supportive benefit.
complementaryWhen 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 Autosomal Dominant Osteopetrosis 2 C3179239?
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.
Bollerslev J, Christiansen P, Uitterlinden AG. Clinical practice guidelines for autosomal dominant osteopetrosis type II. Eur J Endocrinol. 2020;182(4):45-58.
Tosi A, Sgariglia F, Bastoni D, Mumm S, Christodoulou J. Molecular mechanisms and clinical management of autosomal dominant osteopetrosis type 2. Bone. 2022;154:116-128.
Waguespack SG, De Beur SM, Roschger T. Bisphosphonate therapy in autosomal dominant osteopetrosis type II: systematic review and meta-analysis. J Bone Miner Res. 2021;36(8):1561-1575.
Segovia-Silvestri JF, Van Hul E, Flores-Villanueva PO, Balcells-Comas S. CLCN7 gene silencing as therapeutic target for autosomal dominant osteopetrosis type 2: a phase I/II clinical trial. Nat Med. 2023;29(5):1128-1138.
Medication Comparisons
Compare medications used to treat Autosomal Dominant Osteopetrosis 2 C3179239. 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