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Joint hypermobility syndrome, including hypermobile Ehlers–Danlos syndrome (hEDS), is present in a large proportion of people with functional dyspepsia — a common gastrointestinal disorder also known as indigestion without an underlying cause, a study showed. The presence of joint hypermobility, however, does not significantly prevent the digestive system from working…

A new mutation causing classical Ehlers-Danlos syndrome (EDS) has been identified in a child whose parents did not carry the mutation. The mutation is of a type known to cause more severe symptoms. The case report, “Glycine substitution mutation of COL5A1 in classic Ehlers–Danlos syndrome: a case report…

Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…

Note: This story was updated March 10, 2021, to provide an updated definition of autism spectrum disorder.  A higher frequency of attention-deficit/hyperactivity disorder and autism spectrum disorder was found in children with hypermobile EDS (hEDS) or hypermobility spectrum disorders (HSD), a Swedish study shows. These findings support the…

Hospitalized patients with Ehlers-Danlos syndrome (EDS) experience more gastrointestinal (GI), cardiovascular, nervous, and allergic conditions than those without EDS, a recent study has found. The findings suggest physicians should consider the possibility of EDS and exercise appropriate precautions when examining patients in whom these conditions have no other apparent…

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

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…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

The Ehlers-Danlos Society is pulling together a coalition aimed at addressing a broad range of pediatric concerns in Ehlers-Danlos syndrome (EDS) and hypermobility spectrum disorders (HSD). Among its focus areas will be misdiagnoses, evidence gaps in medical complications, and child abuse. The nascent AHEAD coalition — Action for Infants,…