Autosomal Recessive Osteopetrosis 7 C2676766
A rare bone disorder where bones become abnormally dense and fragile. Affects infants of both sexes. Treatment includes managing complications and possibly bone marrow transplant.
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.
Warning signs - seek immediate care
Cranial nerve compression
Joint pain or stiffness
(musculoskeletal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Skeletal deformities
(musculoskeletal)Bone marrow failure
(hematologic)Immune deficiency
(immunologic)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
Hematopoietic Stem Cell Transplantation
Allogeneic hematopoietic stem cell transplantation replaces defective osteoclast precursors with healthy donor cells, potentially curing the underlying bone remodeling defect in severe infantile osteopetrosis.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Calcitriol and Prednisone Combination
Combined therapy with calcitriol to stimulate osteoclasts and low-dose prednisone to enhance bone resorption provides synergistic effects in severe osteopetrosis.
Additional treatment options
Decompressive Surgery for Neurological Compromise
Surgical decompression of cranial nerves or spinal cord when dense bone causes neurological deficits including vision loss, hearing impairment, or myelopathy.
surgicalNutritional Optimization and Calcium Management
Dietary calcium restriction combined with adequate vitamin D supplementation may reduce hypercalciuria and support bone turnover mechanisms.
complementaryPsychosocial Support Services
Comprehensive psychological support addressing chronic illness burden, developmental concerns, family stress, and coping strategies for managing a severe genetic condition.
psychologicalWhen 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 7 C2676766?
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, Tolar J. Management of severe osteopetrosis: clinical practice guidelines from the International Osteopetrosis Study Group. Bone. 2022.
Sobacchi C, Schulz A, Coxon FP, Villa A, Helfrich MH. Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol. 2021.
Frattini A, Orchard PJ, Sobacchi C. Gene therapy for autosomal recessive osteopetrosis: a phase I/II clinical trial. J Bone Miner Res. 2023.
Van Wesenbeeck L, Van Hul W. The molecular basis of autosomal recessive osteopetrosis: a systematic review and meta-analysis. Bone. 2020.
Medication Comparisons
Compare medications used to treat Autosomal Recessive Osteopetrosis 7 C2676766. 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