Rare diseases

Rare disease

In Poland (according to the recommendations of the European Union) a disease that affects fewer than 5 patients per 10 000 people is considered as rare disease (in comparison, in Japan it is 2.5 patient per 10 000 people, while in the United States 7 patients out of 10 000 people). It is estimated that a rare disease, which belongs to a broader group of orphan diseases, may affect over 300 million people globally. More than 7 000 rare diseases has been reported in the world.

Ultra-rare disease

An ultra-rare disease in Europe is a condition occurring in 1 patient per 50 000 people (less than 20 patients per 1 000 000 people) and in the United States the disorder is attributed as ultra-rare, if occurs in less than 2 000 patients in relation to the country’s population. The exact number of ultra-rare diseases is unknown.

Syndrome without a name – SWAN

It is a set of symptoms, ailments, consisting of a disorder or condition, which has not been scientifically described, and the diagnosis cannot be classified to any existing disease entity in the world.

Categories of rare diseases with examples

Rare hematologic diseases:
  • Diamond-Blackfan anemia
  • Fanconi anemia
  • Wiskott-Aldrich syndrome
  • Rare types of hemophilia
  • Rare types of lymphoma and leukemia
Rare endocrine diseases: 
  • Acromegaly
  • Bardet-Biedl syndrome
  • CHARGE syndrome
  • Cushing disease
  • MOMO syndrome
Rare metabolic diseases: 
  • Gaucher disease
  • Mucopolysaccharidosis
  • SCOT deficiency
  • Tay-Sachs disease
  • Wilson disease
Rare immunologic diseases:
  • Ataxia telangiectasia
  • Behçet disease
  • Bloom syndrome
  • Chediak-Higashi syndrome
  • Rare types of immunodeficiencies
Rare neurological diseases:
  • Autism and Asperger syndrome
  • Creutzfeldt-Jakob disease
  • Hereditary and congenital distonias
  • CANOMAD syndrome
  • Rett syndrome
Rare developmental defects:
  • Hirschsprung disease
  • Marfan syndrome
  • Möbius syndrome
  • Shprintzen-Goldberg syndrome
  • Treacher Collins syndrome