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Orthopaedic disorders in Ehlers–Danlos syndromes
By Karelle Benistan (Génétique Médicale), Geoffroy Nourissat (Chirurgie du membre supérieur), Christophe Nich (Chirurgie du membre inférieur), Valéria Martinez (Médecine de la Douleur), Nadra Gader (Médecine Physique et de Réadaptation) in category
Centre de référence des SED Hôpital Raymond Poincaré - Garches
Ehlers–Danlos syndromes (EDS) are a heterogeneous group of hereditary connective tissue diseases characterized by joint hypermobility, skin hyperelasticity and connective tissue fragility. They are due to defects in the biosynthesis and/or structure of proteins in the extracellular matrix. Inheritance is usually autosomal dominant. Worldwide prevalence is estimated at 1 in 5000.
There have been several successive classifications. The Villefranche classification, proposed in 1997, was used up until 2017. However, it is no longer relevant because, since 1997, we have been identifying new genes implicated in EDS. A new international classification was published in March 2017, which now recognizes 13 types of EDS: hypermobile, classical, vascular, kyphoscoliotic, arthrochalasia, dermatosparaxis, cardiac–valvular, classical-like, myopathic, musculocontractural, spondylodysplastic, periodontal and brittle cornea syndrome. Diagnosis of EDS is based on specific diagnostic criteria for each type (the 2017 EDS International Classification).
Hypermobile Ehlers–Danlos syndrome (hEDS) is the most common (80–90% of EDS). Its molecular basis has yet to be confirmed (haploinsufficiency of the TNXB gene might explain 5% of hEDS). It begins in childhood and manifests as generalized joint...
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