What is classical-like Ehlers-Danlos syndrome, TNXB-related? Classical-like Ehlers-Danlos syndrome, TNXB-related, also known as clEDS, TNXB-related or clEDS Type 1, is an inherited condition that causes connective tissue abnormalities. There are several types of Ehlers-Danlos syndrome that have different causes. Classical-like Ehlers-Danlos syndrome, TNXB-related is caused by harmful genetic changes (variants) in the TNXB gene. Most individuals with clEDS, TNXB-related, experience symptoms starting in childhood, although many are not officially diagnosed until adulthood. The most common symptoms of the condition include stretchy (hyperextensible) and soft (velvety) skin, as well as joints that have a larger-than-normal range of movement (hypermobility). Joint dislocation is frequently observed. Other symptoms of clEDS, TNXB-related, include easy bruising of the skin, hand or foot abnormalities, weak muscles, heart problems, and slipping (prolapse) of the vagina, uterus, and rectum. Many individuals with the condition experience fatigue and a loss of sensation (axonal polyneuropathy). Many people have fragile tissues that can lead to complications in the digestive system, rupture of the windpipe (trachea) if artificial breathing is required, and cartilage damage after nose blowing. Individuals with clEDS, TNXB-related have normal intelligence. How common is classical-like Ehlers-Danlos syndrome, TNXB-related? The incidence of clEDS, TNXB-related is unknown. There are fewer than 100 cases reported in the published literature. How is classical-like Ehlers-Danlos syndrome, TNXB-related, treated? There is no cure for clEDS, TNXB-related. Treatment is intended to reduce symptoms and increase quality of life. Many individuals will require physical and occupational therapy to increase muscle strength and adaptive devices to help with movement. A foot physician (podiatrist) can assess and treat foot abnormalities, and a physician specializing in heart issues (cardiologist) can assess and treat heart problems. Individuals with clEDS, TNXB-related, should avoid sports that strain their joints and are encouraged to maintain a healthy weight. Individuals with clEDS, TNXB-related are at a higher risk for complications during invasive gastrointestinal procedures, like a colonoscopy, therefore, all procedures should be carefully discussed with a physician who specializes in issues of the digestive system (gastroenterologist). Pregnant people with clEDS, TNXB-related, are at a higher risk for pregnancy complications and should work closely with a physician who specializes in caring for high-risk pregnancies (obstetrician/gynecologist). What is the prognosis for an individual with classical-like Ehlers-Danlos syndrome, TNXB-related? The prognosis for individuals with clEDS, TNXB-related, depends on the severity of their symptoms. Most individuals live well into adulthood but will require some therapy or physical support. Damage to fragile tissues, particularly of the gastrointestinal system, can be life-threatening. There are reports of pregnant individuals with clEDS, TNXB-related, successfully having a child. Although the long-term data is limited, many people with the condition can live well into their 50s and 60s. Other names forclassical-like Ehlers-Danlos syndrome, TNXB-related Classical-Like Ehlers-Danlos syndrome (clEDS) Type 1 TNXB-Related Classic-Like Ehlers-Danlos Syndrome TNXB-Related clEDS References Green et al., 2020, Genet Med, 22(10):1576-1582, PMID: 32572181 Gregg et al., 2021, Genet Med., 23(10):1793-1806, PMID: 34285390 Malfait et al., 2017, Am J Med Genet C Semin Med Genet, 175(1):8-26, PMID: 28306229 OMIM: Online Mendelian Inheritance in Man, OMIM [600985], 2018, https://www.omim.org/entry/600985 van Dijk et al., 2022, https://www.ncbi.nlm.nih.gov/books/NBK584019/