• Costello Syndrome

    Costello Syndrome

    costello

    Described for the first time in 1971, Costello syndrome, or syndrome Facio-cutaneous-skeletal, is a rare disease that reveals itself in the first months of life and is characterized by postnatal growth retardation, thick lines, a retardation and skin abnormalities and heart.

    costello

    Described for the first time in 1971, Costello syndrome, or syndrome Facio-cutaneous-skeletal, is a rare disease that reveals itself in the first months of life and is characterized by postnatal growth retardation, thick lines,...

  • The Cardio-Facio-Cutaneous...

    The Cardio-Facio-Cutaneous Syndrome

    cfc

    Syndrome Facio-cardio-skin is characterized by cardiac abnormalities (abnormal heart valves, ventricular septal and inter atrial cardiomyopathy and cardiac arrhythmias), characteristic facial abnormalities and skin (hyperkeratosis, ichthyosis, eczema, xerosis). The hair is typically sparse, curly, thin, brittle. The eyebrows are absent. The nails are dystrophic or having an overgrowth. Mental retardation of varying intensity was present in all affected individuals. Unlike Costello syndrome and Noonan syndrome are the two main differential diagnoses, these individuals have no particular risk to have malignant tumors.

    cfc

    Syndrome Facio-cardio-skin is characterized by cardiac abnormalities (abnormal heart valves, ventricular septal and inter atrial cardiomyopathy and cardiac arrhythmias), characteristic facial abnormalities and skin (hyperkeratosis,...

  • Livret Costello

    Livret Costello

  • Le Petit Journal 2023

    Le Petit Journal 2023

    news

  • Assemblée Générale de 2023

    Assemblée Générale de 2023

    news

    Sorry, this entry is only available in Français.

    news

    Sorry, this entry is only available in Français.

about

Who are we?

  • Creation

    Created in 2000 at the initiative of 3 families, it now has 400 members and 40 contacts with people with Costello syndrome and CFC syndrome, everywhere in France, Europe and other continents.

  • Support

    It is accompanied by a scientific committee chaired by the Medical Professor Didier Lacombe, pediatrician geneticist at the University Hospital of Bordeaux and involving many doctors and French and European researchers.

  • Initiative

    It has initiated research programs, and collaborations between French and foreign teams (Europe, USA).

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