Table 2

Rare disease categories seen most frequently by paediatricians during their career

Type of rare diseaseN (%)Examples of specific diseases
Metabolic/genetic198 (88)Galactosaemia; medium-chain acyl-CoA dehydrogenase deficiency; phenylketonuria; citrullaemia; ornithine transcarbamylase deficiency; trisomies 8, 13, 18
Neurological161 (72)Lissencephaly; Lennox-Gastaut syndrome; muscular dystrophies; neuraxonal dystrophy
Immunological102 (45)Severe combined immunodeficiency; IgA deficiency; hyper IgE syndrome; chronic granulomatous disease
Skeletal95 (42)Achondroplasia; osteogenesis imperfecta; osteopetrosis; asphyxiating thoracic dystrophy
Cardiac85 (38)Ebstein’s anomaly; hypoplastic left heart syndrome; transposition of the great arteries; long QT syndrome; cardiomyopathy
Respiratory80 (36)Alveolar capillary dysplasia; pulmonary lymphangiectasis; surfactant protein C deficiency
Endocrine80 (36)Congenital hypothyroidism; McCune-Albright
syndrome; hypophosphatasia; congenital adrenal hyperplasia
Gastrointestinal77 (34)Biliary atresia; giant omphalocoele; gut duplication;
Neonatal haemochromatosis; Crohn’s disease
Renal75 (33)Polycystic kidneys; congenital nephrotic syndrome; nephronophthisis; Bartter syndrome, renal tubular acidosis
Dermatological75 (33)Epidermolysis bullosa; incontinentia pigmenti; Stevens-Johnson syndrome; toxic epidermal necrolysis
Connective tissue73 (32)Pseudoxanthoma elasticum; Marfan syndrome;
Ehlers-Danlos syndrome
Cancer71 (32)Medulloblastoma; Wilms; retinoblastoma; atypical teratoid rhabdoid tumour; Ewing’s sarcoma; hepatoblastoma; childhood melanoma
Infectious52 (23)Kingella kingae infection; HIV infection; onchocerciasis;
respiratory papillomatosis
Rheumatic39 (17)Juvenile onset rheumatoid arthritis; systemic lupus erythematosus; Behçet’s disease
  • CoA, coenzyme A.