These diseases include, among others: Osteogenesis imperfecta, Ehlers-Danlos syndrome, Marfan syndrome, achondroplasia, hypophosphatasia, fibrous dysplasia/McCune-Albright syndrome, fibrodysplasia ossificans progressiva, pseudohypoparathyroidism, X-linked hypohosphatemia, multiple osteochondromas, autosomal recessive hypophosphatemic rickets and other diseases.
Rare connective tissue and skeletal diseases lead to considerable restrictions in the daily lives of affected patients. Although many different organs are affected by the disease, the symptoms of the musculoskeletal system are experienced as particularly stressful.
For adults with connective tissue and skeletal diseases, we offer comprehensive care at the referral center in the special consultation hour for rare diseases of the musculoskeletal system. This is managed on an interdisciplinary basis by specialists from the University Hospital Zurich and Balgrist University Hospital in close cooperation with the University Children’s Hospital Zurich. This means that continuous support remains in place even after the transition from childhood to adulthood.
If a connective tissue or skeletal disorder is suspected, we carry out the necessary specialist examinations and arrange for further diagnostic steps to be taken. Patients are given comprehensive advice on conservative (e.g. shoe fitting, splinting) and surgical treatment options for the musculoskeletal system.
There is also close interdisciplinary cooperation with other specialists (e.g. cardiology, endocrinology, neurology), who are consulted if necessary.
For children and adolescents with connective tissue and skeletal diseases, we offer comprehensive care at the University Children’s Hospital Zurich with close interdisciplinary cooperation with other specialists (e.g. cardiology, rheumatology, endocrinology, neurology, orthopaedics) as well as specific examinations such as:
- Special radiology meetings
- Electron microscopy and special analyses in skin cells
- Molecular genetic examinations incl. Genetic counseling
- Multidisciplinary support
- Bone density measurement
- Outpatient infusion therapies
- Transition consultation
Further tests are possible in cooperation with other departments of the Children’s Hospital.
