Center for Rare Skeletal Disorders

Rare skeletal disorders can become apparent in childhood or adulthood, and their severity can vary widely. In some conditions, symptoms are confined to the skeleton, while in others additional organs are affected. Especially tissues closely linked to the skeleton, such as connective tissue and teeth, are often involved.

Currently, just over 700 rare skeletal disorders are known, most of which are caused by genetic variations. These changes may be inherited, but they can also arise de novo in individual cells of the body (for example, in mastocytosis). More than 500 different disease-associated genes have been identified for the hereditary forms. For a steadily growing number of rare skeletal disorders, specific therapies are available, and access to these treatments is enabled by a precise diagnosis based on genetic testing.

Our center serves as a point of contact for patients of all ages with rare skeletal disorders, their families, and referring physicians. Our interdisciplinary team of experts, complemented by national and international networks, ensures comprehensive and individualized care in line with the current state of medical knowledge.