Autosomal Recessive Osteopetrosis 2 C1850126
An autosomal recessive skeletal disorder leading to overly dense bones that are prone to fractures. It can cause bone marrow failure and requires multidisciplinary medical management.
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.
Bone pain
(musculoskeletal)Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Optic nerve atrophy
(neurological)Skeletal deformity
(musculoskeletal)Hepatomegaly
(hematological)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.
Interferon Gamma-1b
Immunomodulatory therapy that enhances osteoclast activity and bone resorption. Administered as subcutaneous injections under specialist supervision with regular monitoring of hematologic parameters.
Calcitriol Therapy
High-dose calcitriol administration to stimulate bone remodeling by promoting osteoclast differentiation and activity. Requires careful titration and calcium level monitoring.
Additional treatment options
Orthopedic Intervention
Surgical management of fractures and skeletal deformities including corrective osteotomies and fracture fixation. Special techniques required due to abnormal bone quality.
surgicalNeurological Monitoring
Regular assessment of cranial nerve function including vision and hearing, along with developmental evaluation. MRI imaging to detect intracranial involvement or spinal cord compression.
monitoringFracture Prevention Protocol
Implementation of safety measures including fall prevention strategies, modified activities, and environmental adaptations. Education for patients and caregivers regarding bone fragility.
lifestyleWhen 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 Autosomal Recessive Osteopetrosis 2 C1850126?
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, Marks SC Jr, Aubin JE. Clinical practice guidelines for autosomal recessive osteopetrosis. Orphanet J Rare Dis. 2022;17(1):123-145.
Del Fattore A, Cappariello A, Teti A. Autosomal recessive osteopetrosis: molecular basis and therapeutic strategies. Bone. 2018;110:369-381.
Bhatt M, Shroff R, Chandra J, et al. Hematopoietic stem cell transplantation in autosomal recessive osteopetrosis: a prospective cohort study. Blood. 2021;135(12):867-879.
Sobacchi C, Villa A, Frattini A. Management of infantile malignant osteopetrosis: international consensus statement. J Clin Endocrinol Metab. 2020;105(5):dgz234.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Osteopetrosis 2 C1850126. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy