Authors: MARCO CASTORI,* BRAD TINKLE, HOWARD LEVY, RODNEY GRAHAME,
FRANSISKA MALFAIT, AND ALAN HAKIM
Am J Med Genet Part C Semin Med Genet 9999C:1–10.
-A new classification system for Ehlers–Danlos syndrome (EDS) identifies more than 20 types of EDS which has led to patients who do not fulfil the criteria of “full-blown” EDS-HT but have many features of hEDS and Joint Hypermobility, to be left without a diagnosis.
– Highlights the need for a single set of criteria that can substitute the previous criteria for the overlapping conditions of JHS and EDS-HT
– Introduces a concept of a spectrum of pathogenetically related manifestations of joint hypermobility intersecting with syndromes that manifest as multiple conditions including joint hypermobility resulting from a single gene (pleiotropic syndromes) – as distinctly apart from other syndromes with joint hypermobility
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