International Journal of Physical Medicine & Rehabilitation
Open Access

Abstract

Understanding Osteopetrosis as a Rare Genetic Bone Disorder and its Multisystemic Impact

Craig H Lichtblau*, Dror Paley, Allyson Gorman, Christopher Warburton and Gabrielle Meli

Osteopetrosis, also referred to as Albers-Shonberg disease or marble bone disease, refers to metabolic bone diseases that adversely affect bone health and can have far reaching health implications. Osteopetrosis is a rare genetic disease that involves osteoclast dysfunction that leads to brittle bones that are susceptible to fracture. There are 4 forms of the condition, each of which manifests differently and is managed differently. Here, we summarize the latest in what is known about osteopetrosis and its management.

Published Date: 2024-11-29; Received Date: 2024-10-25