Claude Messiaen1, Geneviève Baujat2, Amélie Ruel1, Martine Cohen Solal3, Véronique Forin4, Christian Roux5, Roland Chapurlat6, Caroline Michot1, Rémy Choquet1, Valérie Cormier-Daire2 1 Banque Nationale de données Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, APHP, France 2 Centre de Référence Maladies Osseuses Constitutionnelles (Reference Centre for Genetic Bone Diseases), Hôpital Universitaire Necker-Enfants Malades et Institut Imagine (AP-HP), Paris, France 3 Centre de Référence Maladies Osseuses Constitutionnelles (Reference Centre for Genetic Bone Diseases), Hôpital Lariboisière (AP-HP), Paris, France 4 Centre de Référence Maladies Osseuses Constitutionnelles (Reference Centre for Genetic Bone Diseases), Hôpital Trousseau (AP-HP), Paris, France 5 Centre de Référence Maladies Osseuses Constitutionnelles (Reference Centre for Genetic Bone Diseases), Hôpital Cochin (AP-HP), Paris, France 6
Centre de Référence Dysplasies Fibreuses des Os (Reference Centre for Osteofibrous dysplasia), Hôpital Edouard Herriot (HCL), Lyon, France
Epidemiology approach in skeletal dysplasia in France: 8-year experience by the centre of reference for rare skeletasia
Objectives Skeletal dysplasia (SD) are responsible of variable short stature, deformations and pain, leading to severe disabilities. Since 2007, all patients seen for expertise in the French Centre of Reference (CR) for skeletal dysplasia, are recorded in CEMARA[1], database dedicated to rare diseases. The study objective is to characterized the epidemiological data about SD in France, for adapting the offer of care and services to the population needs. [1] Messiaen C et al, CEMARA: a Web dynamic application within a N-tier architecture for rare diseases. Stud Health Technol Inform. 2008;136:51-6.
Warning Analysed data are product of a declarative registry.
CONCLUSION This is the first global study about SD at a quasi-national level. This descriptive study allows to approach the epidemiology on specific rare diseases in France.
Methodes The CEMARA system records for each patient a minimal data set, sharing its ontology accorded to the Nosology and Classification of Genetic Skeletal Disorders. Records in CEMARA for the period 2007-20015 are reviewed. A « case » is defined according to the status of the diagnosis assertion: confirmed, likely, unlikely. The regional prevalences are standardized.
Children Adults
0% 25% 50% 75% 100%
Confirmed Unconfirmed
0% 25% 50% 75% 100%
Diagnosis assessment
Results as of 31/12/2015
Demand of care
7.874 patients
Offer of care
Constantly increasing inclusion
887 new cases
/ year
Cohort Age at onset
Estimated prevalence in Paris region:
18.20 per million IC 95% [11.59 - 27.46]
Prevalence
ORPHA Code Label Number of cases 666 Osteogenesis imperfecta 1120 15 Achondroplasia 272 249 Fibrous dysplasia of bone 241 321 Multiple osteochondromas 238 240 Léri-Weill dyschondrosteosis 131 251 Multiple epiphyseal dysplasia 109 337 FOP 76 429 Hypochondroplasia 76 296 Enchondromatosis 62 285 Ehlers-Danlos syndrome type 3 58 89937 Autosomal dominant hypophosphatemic rickets 54 437 Hypophosphatemic rickets 53 68335 Chromosomal anomaly 52 98249 Ehlers-Danlos syndrome 50 558 Marfan syndrome 48 750 Pseudoachondroplasia 45 582 Mucopolysaccharidosis type 4 44 1452 Cleidocranial dysplasia 41 2614 Nail-patella syndrome 40 94068 Spondyloepiphyseal dysplasia congenita 39 474 Jeune syndrome 36 828 Stickler syndrome 36 253 SED 33 199 Cornelia de Lange syndrome 32 628 Diastrophic dwarfism 32
652 different diseases
The 25 most frequent diagnoses
Adequation between offer and demand of care
33 minutes to hospital
163 physicians
16 sites