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Reference centre for rare bone diseases and rare non-inflammatory connective tissue diseases

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A reference centre of the National Coordination of Rare Diseases (kosek) meets high standards in the care, education and research of rare diseases. It offers specialised consultation hours and information and coordinates a range of services for those affected across all ages. The aim is to provide the best possible support and care for children, adolescents and adults with rare diseases.

The University Centre for Rare Diseases Basel is a joint service of the UKBB and the University Hospital Basel USB. Since 2020, this service has been recognised by the cosecwhich is committed to improving the care situation for people affected by rare diseases.

Genetic bone diseases are congenital, chronic, genetic diseases of the bone, cartilage and dentin. These diseases show great variability in their clinical manifestations and the associated health problems of the patients affected. Comprehensive assessment, treatment and long-term care of patients and their families require close interdisciplinary and interprofessional dialogue.

Selection of genetic bone diseases

  • Osteogenesis imperfecta (OI)
  • Achondroplasia (ACH)
  • X-linked hypophosphataemia (XLH)
  • Hypophosphatasia (HPP)
  • Multiple osteochondromas (MO)
  • Fibrous dysplasia/McCune Albright syndrome (FD/MAS)
  • Pseudohypoparathyroidism (PHP)
  • Fibrodysplasia ossificans progressiva (FOP)
  • Autosomal recessive hypophosphataemic rickets type 2 (ARHR2)

In total, genetic bone diseases comprise 771 different diseases, which are classified into 41 groups (Unger et al, Am J Med Genet A. 2023).

Offer

Bone Board Basel

The Bone Board Basel brings together specialists in genetics, paediatric orthopaedics and paediatric and adult medicine in the fields of endocrinology/osteology, nephrology and rheumatology from the University Children's Hospital Basel (UKBB) and the University Hospital Basel (USB) in collaboration with the Endonet Practice (Basel), who have expertise in the diagnosis and medical or surgical treatment of genetic bone diseases. The Bone Board Basel offers a Interdisciplinary consultation to enable affected children to be diagnosed quickly and to improve their treatment. Once a diagnosis has been made and a treatment plan defined at the Bone Board Basel, patients receive further care in one of the specialised consultation hours, depending on the bone disease, and return to the Bone Board if necessary.

USB

  • Orthopaedic consultation
  • Endocrinological/osteological consultation hours
  • Nephrology consultation
  • Rheumatological consultation
  • Genetic consultation

Research

  • A Phase 3, open-label, multicenter, randomised study to evaluate the efficacy and safety of romosozumab compared with bisphosphonates in children and adolescents with OI
  • A Phase 3, Multi-centre, Randomised, Double-blind study to Assess the Safety and Efficacy of Emactuzumab vs. placebo in subjects with Tenosynovial Giant Cell Tumour (TGCT) (Short title: "TANGENT") - from 12 years age

Networked disciplines

Patient organisations

Counselling hotline for child and youth emergencies

The Medgate Kids Line provides quick and uncomplicated medical advice if your child is unwell. The medical team of our partner Medgate is available to you by telephone around the clock.

058 387 78 82
(billing via health insurance)

For emergencies abroad: Call the emergency number of your health insurance company. You will find this number on your health insurance card.

More information: On the Page of the emergency ward you will find everything you need to know about behaviour in emergencies, typical childhood illnesses and waiting times.

Important emergency numbers

144 Outpatient clinic
145 Tox Info Suisse (Poisonings)
117 Police
118 Fire brigade

UKBB

University Children's Hospital Basel
Spitalstrasse 33
4056 Basel | CH

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