A woman with kyphoscoliotic Ehlers-Danlos syndrome (EDS), a rare disease form that causes an abnormally curved spine, went misdiagnosed with Larsen syndrome, which can also cause the spine to curve, for more than 40 years, according to a report. This case in the U.S. highlights the value of genetic testing…

A young woman with kyphoscoliotic Ehlers-Danlos syndrome (kEDS) showed severe alterations in blood vessels that complicated her clinical care, a case study reports. “kEDS is a rare disease impacting multiple organ systems requiring the involvement of a specialized multidisciplinary team to optimize management,” researchers wrote. The case study, “…

A young girl was diagnosed with the classical type of Ehlers–Danlos syndrome (EDS) despite showing signs of kyphoscoliotic EDS (kEDS), a case study reported. Her diagnosis was confirmed only after the discovery of a previously unreported variant in the COL5A2 gene, known to be associated with classical EDS…

A newly discovered mutation in the FKBP14 gene results in a misfolded protein that causes kyphoscoliotic Ehlers-Danlos Syndrome (kEDS), a rare subtype of this orphan disease marked by a spinal curvature that causes a hunched appearance. Work on a molecular characterization of this mutation…

Despite similar clinical symptoms among kyphoscoliotic Ehlers-Danlos syndrome (kEDS) patients carrying mutations in the PLOD1 or FKBP14 genes, the molecular pathways underlying the disease may be different in each case, according to a new study. The study, “Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1-…