LRP5-related primary osteoporosis

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.

Disease data

Classification

Malformation syndrome

ORPHA code

498481

OMIM code

ICD10 code

ICD11 code

*Soruce