Paediatric Rare Diseases (Seltene Kinderkrankheiten) in Germany: Specialised Centres and Advanced Care
In Germany, a disease is classified as “rare” if it affects fewer than 5 out of 10,000 people. In children, these conditions are often genetic or congenital syndromes, and may include:
| Type of disease | Examples |
|---|---|
| Metabolic disorders | Phenylketonuria (PKU), mucopolysaccharidoses |
| Neuromuscular disorders | Spinal muscular atrophy (SMA), Duchenne muscular dystrophy |
| Rare immune disorders | SCID (Severe Combined Immunodeficiency), Wiskott–Aldrich syndrome |
| Rare skin diseases | Epidermolysis bullosa |
| Multiple congenital anomalies | Syndromic conditions such as CHARGE syndrome or Rett syndrome |
Across Germany, numerous centres for rare diseases in children (Zentren für seltene Erkrankungen – ZSE) are located within major university hospitals. They offer:
State-of-the-art genetic diagnostics, including genome sequencing
Multidisciplinary care, involving paediatricians, geneticists, child neurologists, nutrition specialists and others
Cooperation with social workers, psychologists and specialised schools for educational support
Lifelong follow-up, where necessary, for chronic or progressive conditions
Some of the key centres include:
| Centre | City |
|---|---|
| Zentrum für Seltene Erkrankungen – Charité | Berlin |
| ZSE für Kinder – Universitätsklinikum Tübingen | Tübingen |
| ZSE für Kinder – Universitätsklinikum Heidelberg | Heidelberg |
| ZSE München (LMU + TU clinics) | Munich |
| ZSE Bonn – Kinderzentrum | Bonn |
| DRK Kliniken – Special outpatient clinic for rare paediatric diseases | Mainz |
First, visit your paediatrician (Kinderarzt) and discuss all unusual or persistent symptoms.
Obtain a referral (Überweisung) to a ZSE specialising in paediatric rare diseases.
Undergo initial investigations, such as blood and urine tests, imaging and preliminary genetic testing.
Take part in a multidisciplinary case conference, where experts from different fields jointly discuss the findings and next steps.
Both statutory health insurance (GKV) and private health insurance (PKV) generally cover diagnostic and treatment costs if a medical referral is in place.
Certain complex genetic tests may require prior approval by the health insurance fund.
Families of children with rare diseases often face a high emotional, practical and financial burden. Important sources of support include:
Patient organisations, such as ACHSE e. V. (Alliance for Chronic Rare Diseases)
Diagnosis-specific self-help and support groups
Psychological and social counselling, often offered free of charge within the centres or via hospital social services
Educational support programmes, including inclusive nurseries and specialised schooling options for children with complex medical needs
The editorial team of this website strives to provide accurate information based on thorough research and multiple sources. Nevertheless, errors or incomplete details cannot be entirely ruled out. Please treat this article as an initial point of reference only and always consult the relevant authorities and qualified professionals for binding, case-specific advice.
