Jansen's Metaphyseal Chondrodysplasia

📋Overview

Jansen's Metaphyseal Chondrodysplasia is a rare genetic skeletal disorder characterized by abnormal bone development, particularly affecting the metaphyses of long bones. It is caused by activating mutations in the PTH1R gene, leading to abnormal signaling of the parathyroid hormone receptor. This condition is part of a group of disorders known as metaphyseal chondrodysplasias and is distinct from other forms by its unique clinical and radiographic features.