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The following is a list of pathologies1 that are often hereditary and which are advised to investigate their presence in the family medical history.

NOTE: The list of pathologies described may not be exhaustive.

Rheumatology

  • Achondroplasia
  • Amyotrophic Lateral Sclerosis
  • Charcot-Marie-Tooth Syndrome
  • Cockayne’s Syndrome
  • Diastrophic dysplasia
  • Duchenne muscular dystrophy
  • Ellis-van Creveld Syndrome
  • Progressive ossifying fibrodysplasia
  • Ehlers-Danlos syndrome
  • Joint Hypermobility Syndrome
  • Marfan syndrome
  • Imperfect osteogenesis
  • Myotonic dystrophy
  • Osteochondromatosis
  • Family Mediterranean fever (FMF)
  • PFAPA
  • TRAPS
  • Cold Family Urticaria (CINCA)
  • Muckle-Wells syndrome
  • Hyper-IgD Syndrome
  • DIRA
  • Blau’s syndrome
  • Ataxia telangiectasia
  • Autoimmune polyglandular syndrome
  • Burkitt’s lymphoma
  • Diabetes mellitus, type 1
  • DiGeorge’s Syndrome
  • Immunodeficiency with hyper-IgM
  • Chronic myeloid leukemia
  • Severe combined immunodeficiency