LRP5-related primary osteoporosis
ORPHA:498481· ICD-10 M85.8
Definition
A rare primary bone dysplasia characterized by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood