Table 1.

Estimated European prevalence rates of the 22 selected Rare Diseases

Rare disease name

Estimated prevalence (per 100,000)

Congenital isolated hyperinsulinism Scleroderma (systemic sclerosis, localised sclerosis) Familial QT syndrome (Inc. Romano Ward) Primary systemic amyloidosis Retinitis pigmentosa Fragile X Neurofibromatosis 1 Marfan syndrome Sickle cell anaemia Sarcoidosis Haemophilia Huntington’s disease and rare neurodegenerative disease Phenylketonuria 22q11.2 Deletion syndrome (DiGeorge syndrome) Duchenne or Becker muscular dystrophy Prader-Willi syndrome Epidermolysis bullosa Mucopolysaccharidosis (type 2) Rare ataxias (including Friedreich’s) Tuberous sclerosis Osteogenesis imperfecta Motor neuron disease

2.0 BP 42.0 P 40.0 BP 30.0 P 26.7 P 32.5 P 21.3 P 15.0 P 22.0 P 12.5 P 7.7 P 2.7 P 10.0 BP 37.5 BP 4.78 P/ 1.53 P 3.1 BP 2.2 BP * 10.0 P 2.0 P * 12.0 P 10.0 P 3.85 P

Estimates provided from the Orphanet Report Series

P = prevalence; BP = birth prevalence

*Estimates shown are for epidermolysis bullosa simplex and Friedreich’s Ataxia