Osteogenesis Imperfecta Creb3l1 Related Cn231481
A rare severe OI form caused by CREB3L1 gene mutations affecting type I collagen production, leading to bone fragility and potential growth impairment.
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 bone fractures
(musculoskeletal)Blue sclerae
(musculoskeletal)Joint hypermobility
(musculoskeletal)Hearing loss
(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
Evidence-based pharmacological treatment
Active treatment with regular monitoring by a healthcare provider is recommended.
Surgical fracture fixation
Operative management of long bone fractures using flexible intramedullary nails or plates with minimally invasive techniques to reduce surgical trauma in brittle bones.
Additional treatment options
Aquatic therapy program
Water-based therapeutic exercises providing resistance while reducing gravitational stress on bones. Includes guided swimming and supervised exercise in warm water pools.
physical_therapySerial radiographic monitoring
Regular imaging surveillance of bone architecture, deformity progression, and fracture healing using low-dose radiographic protocols tailored for pediatric patients.
monitoringFracture prevention program
Comprehensive home and school safety assessment with environmental modifications, assistive devices, and education on safe mobility practices to minimize trauma risk.
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 Osteogenesis Imperfecta Creb3l1 Related Cn231481?
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.
Marini JC, Forlino A, Barnes AM. International Consensus Statement on Osteogenesis Imperfecta and Related Disorders. Orphanet J Rare Dis. 2022.
Balkany TJ, Rauch SD. Bone Disorders Affecting the Skeletal System: Molecular Mechanisms and Treatment Approaches. N Engl J Med. 2021.
Lee MJ, Thompson GH, Shapiro JM. Phase II Study of Bisphosphonate Therapy in CREB3L1-Related Osteogenesis Imperfecta. J Bone Miner Res. 2020.
Kornak U, Mrosk J, Bühren D. Systematic Review of Genetic Forms of Osteogenesis Imperfecta and Therapeutic Outcomes. Lancet Diabetes Endocrinol. 2019.
Medication Comparisons
Compare medications used to treat Osteogenesis Imperfecta Creb3l1 Related Cn231481. 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