New Insights into Craniofacial Features of Jansen’s Disease

We are proud to highlight a groundbreaking publication from our Natural History Study that brings us one step closer to fully understanding the complex manifestations of Jansen’s metaphyseal chondrodysplasia (JMC). In the article titled “Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations”, researchers from the NIH, including Dr. Smitha Jha, Dr. Alison Boyce, and Dr. Harald Jüppner, present the first systematic clinical and radiographic evaluation of craniofacial and dental features in individuals with Jansen’s.

Published in JBMR Plus in 2024, this study marks a significant advancement in how we recognize and care for individuals affected by JMC. It underscores the importance of early identification of distinct facial and skeletal features and lays the groundwork for future research, clinical surveillance, and multidisciplinary care approaches.

Find the full publication here: Jansen metaphyseal chondrodysplasia: analysis of craniofacial manifestations