Classical-like Ehlers-Danlos syndrome, TNXB-related (clEDS), is a condition that affects connective tissues in the body.
Individuals usually starts showing symptoms in childhood, although many people aren’t diagnosed until adulthood. Common symptoms include stretchy and soft skin, overly flexible joints that can easily dislocate, and easy bruising. Other issues can include weak muscles, heart problems, and prolapse of the vagina, uterus, or rectum. While there is no cure, treatment focuses on managing symptoms, such as physical therapy to strengthen muscles and using adaptive devices for movement. People with clEDS should avoid activities that strain their joints, and work closely with specialists, especially during medical procedures and pregnancy, to avoid complications.
This condition is caused by pathogenic (disease-causing) variants in the TNXB gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance of having a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
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Written August 2024
