A rare genetic mutation that arose in a man well before his birth was the cause of Ehlers-Danlos syndrome (EDS) in his daughter, a case study reported. This finding marks only the second reported case of EDS being transmitted through what’s known as gonosomal mosaicism. Study researchers suggested that “further observations will…
An international study involving the largest group of patients worldwide, to date, has for the first time detailed clinical and molecular features of the rare musculocontractural form of Ehlers−Danlos (EDS) syndrome. This form of the condition is characterized by several malformations and progressive fragility-related symptoms, the study…
Seeking to reduce the average 10–12 year wait time for the diagnosis of a hypermobility spectrum disorder, the Ehlers-Danlos Society has created the Center of Excellence program to better educate both patients and physicians about these diseases. The goal is to assist people with Ehlers-Danlos syndrome (EDS)…
Prescription claims for medications for gastrointestinal (GI) symptoms — among them heartburn, indigestion, constipation, and diarrhea — are higher among children and adults with Ehlers-Danlos syndrome (EDS) than in people without these genetic connective tissue disorders, according to a medicinal claims analysis. These findings clearly…
Surgery to correct spinal abnormalities does not appear to pose additional risks for bleeding or postoperative complications related to wound healing in children with Ehlers-Danlos syndrome (EDS), compared with those without EDS having the same procedure, an analysis revealed. The study, “…
Investigations into two newly developed mouse models that mimic the pathology, or typical behavior of vascular Ehlers-Danlos syndrome (vEDS) have revealed that alterations in collagen production and signaling pathways underlie the connective tissue disorder. Blocking these signaling pathways protected…
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