Ehlers-Danlos syndrome, musculocontractural type

Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome. It is defined by distinct craniofacial features as well as multiple contractures, which means that some joints and muscles are abnormally tight from birth. The condition also includes progressive joint and skin laxity, meaning that the joints may become more flexible over time and the skin can be unusually elastic. In addition, people with this condition may experience adduction-flexion contractures of the thumbs, talipes equinovarus (a foot deformity), and easy bruisability. The syndrome is also associated with multisystem fragility-related issues, meaning that several parts of the body might be affected in different ways. This overview is based on the available definition details for the condition.

Common signs of this condition include multiple contractures (tight muscles and joints), progressive joint and skin laxity, and specific hand and foot features such as adduction-flexion contractures of the thumbs and talipes equinovarus. Other symptoms include easy bruisability and fragility in multiple body systems. These features reflect the complex nature of the disorder and the way it can affect many parts of the body.

Ehlers-Danlos syndrome, musculocontractural type is a congenital condition, which means it is present from birth. However, detailed information about the genetic causes, specific genes involved, or other risk factors is currently limited for this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.