Osteogenesis Imperfecta Type 9 C1850169
A severe OI variant caused by PPIB gene mutations affecting collagen synthesis, resulting in significant bone fragility and possible respiratory complications.
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
Multiple fractures
(musculoskeletal)Kyphoscoliosis
(musculoskeletal)Generalized osteopenia
(musculoskeletal)Coxa vara
(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
Bisphosphonate therapy
Intravenous bisphosphonates such as pamidronate or zoledronic acid are used to increase bone mineral density and reduce fracture incidence in patients with severe OI. Treatment typically involves regular dosing cycles under specialist supervision.
Drug therapy with clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Intramedullary rodding
Surgical placement of intramedullary rods in long bones provides internal support and prevents progressive deformity. This procedure is particularly indicated for recurrent fractures or bowing of weight-bearing bones.
Additional treatment options
Adapted physical therapy program
Specialized exercise program designed to improve muscle strength, joint mobility, and functional mobility while minimizing fracture risk. Therapy includes water-based exercises and gentle resistance training.
physical_therapyBone health nutritional support
Comprehensive nutrition plan ensuring adequate calcium and vitamin D intake through diet and supplementation to support bone mineralization. Includes assessment of individual nutritional needs and potential malabsorption issues.
dietaryComprehensive multidisciplinary monitoring
Regular assessment by orthopedic, genetic, endocrine, and pulmonary specialists including annual DEXA scans, hearing tests, and cardiac evaluation to monitor disease progression and organ involvement.
monitoringWhen 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 Osteogenesis Imperfecta Type 9 C1850169?
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.
Forlino A, Marini JC. Osteogenesis imperfecta. Lancet. 2016;387(10028):1657-1671.
Van Dijk FS, Byers PH. Osteogenesis imperfecta. Genet Med. 2018;20(5):465-467.
Barnes AM, Carter EM, Cabral WA, et al. Prolyl 3-hydroxylase deficiency. Am J Med Genet A. 2019;179(6):980-986.
Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2014;383(9918):883-891.
Medication Comparisons
Compare medications used to treat Osteogenesis Imperfecta Type 9 C1850169. 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