Developmental anomalies and malformation syndromes
Welcome to the website of the Rare Disease Reference Centre for Developmental Anomalies and Malformation Syndromes . This site is for families affected by a developmental anomaly, whether isolated or associated with intellectual disability, in a child or adult. As part of the national rare disease plan, the Ministry has therefore created accredited centres with a national or interregional scope.
-
Team
-
Hospital PractitionerGenetic
-
Hospital Practitioner
-
University Lecturer · Hospital Practitioner
-
University Lecturer, Hospital PractitionerMolecular genetics & cytogenetics
-
-
Activities
The missionsThe missions of the AnDDI Reference Centres are to facilitate diagnosis and define a strategy for therapeutic, psychological and social support; define and disseminate care protocols; coordinate research work, participate in epidemiological surveillance; participate in training and information activities for health professionals, patients and their families; lead and coordinate networks of health and social care correspondents; be privileged interlocutors for supervisory bodies and patient associations.
The missions of the constituent center of the Caen Normandy University Hospital- to develop the patient care network not only on a medical level by strengthening links with the services of the University Hospital of Caen Normandy, by creating a network of relay correspondents in the regional hospitals, and by developing advanced consultations, but also with medico-social structures.
- to strengthen video conferencing activities with the different disciplines of the University Hospital, 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 public information days
- In order to train young interns, we regularly welcome interns from other medical specialties.
Research and innovationThe Reference Centre participates in the development of National Diagnostic and Treatment Protocols.
PNDS ) are guidelines for good practice relating to rare diseases. The objective of a PNDS is to explain to the professionals concerned the optimal diagnostic and therapeutic management and the care pathway for a patient with a given rare disease ( HAS - health ).
Two PNDS have been completed and published:
-
Services involved
Service