Classical-like Ehlers-Danlos syndrome type 1

Classical-like Ehlers-Danlos syndrome type 1 (clEDS type 1) is a rare heritable connective tissue disorder caused by biallelic pathogenic variants in the TNXB gene, which encodes tenascin-X, an extracellular matrix glycoprotein important for collagen organization and tissue integrity. This condition shares many features with classical Ehlers-Danlos syndrome but has distinct characteristics. It is also known as Ehlers-Danlos syndrome due to tenascin-X deficiency or EDS tenascin-X deficient type. The disease primarily affects the skin, joints, and musculoskeletal system. Key clinical features include marked skin hyperextensibility with a velvety texture, generalized joint hypermobility that may lead to recurrent joint dislocations and subluxations, and easy bruising. Unlike classical EDS, atrophic scarring is generally absent or minimal in clEDS type 1. Patients may also experience chronic musculoskeletal pain, muscle weakness, and soft tissue fragility. Some individuals develop gastrointestinal complications such as functional bowel disorders, and cardiovascular manifestations including mitral valve prolapse or aortic root dilation have been reported in some cases. There is currently no cure for classical-like EDS type 1. Management is supportive and multidisciplinary, focusing on symptom relief and prevention of complications. Physical therapy plays an important role in strengthening muscles and stabilizing joints. Pain management strategies, joint protection measures, and monitoring for cardiovascular complications are key components of care. Genetic counseling is recommended for affected individuals and their families to understand recurrence risks and inheritance implications.

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