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Developmental abnormalities and malformation syndromes

Welcome to the Caen Reference Center for Rare Diseases Developmental Abnormalities and Malformation Syndromes This site is intended for families affected by a developmental anomaly isolated or associated with a mental deficiency in a child or adult. As part of the national rare diseases plan, the ministry has therefore created labeled centers with a national or interregional vocation.

  • Activities


    The missions of the AnDDI Reference Centers are to facilitate diagnosis and define a strategy for therapeutic, psychological and social support; define and disseminate treatment protocols; coordinate research work, participate in epidemiological surveillance; participate in training and information actions for health professionals, patients and their families; leading and coordinating networks of health and medico-social correspondents; be privileged interlocutors for the guardianship and patient associations.

    The missions of the constituent center of CHU Caen Normandie
    • to develop the patient care network not only on the medical level by strengthening links with the departments of the Caen Normandy University Hospital, by creating a network of relay correspondents in the regional hospitals, and by developing advanced consultations, but also with the medico-social structures.
    • to strengthen the activities of videoconferences with the various disciplines of the CHU, creation of the RCP , Constitutional bone diseases.
    • to strengthen ties with patient associations through a privileged partnership with the Normandy Rare Diseases Alliance, a generation 22 association, and the organization of information days for the general public
    • to train young interns, we regularly welcome interns from other medical specialties.
    Research and innovation

    The Reference Center participates in the development of National Diagnostic and Care Protocols.

    The PNDS are good practice guidelines on rare diseases. The objective of a PNDS is to explain to the professionals concerned the optimal diagnostic and therapeutic management and the course of care for a patient suffering from a given rare disease ( HAS -sante ).

    2 PNDS have been produced and published:

  • Services involved