Who can we help?

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.


  • Marfan’s disease
  • Achondroplasia
  • Angelman’s Syndrome
  • Cockayne’s Syndrome
  • Cystic fibrosis
  • DiGeorge’s Syndrome
  • Fragile X syndrome
  • Prader-Willi syndrome
  • Severe combined immunodeficiency
  • Waardenburg syndrome
  • Werner syndrome
  • Williams syndrome
  • Zellweger syndrome