Ehlers-Danlos syndrome, arthrochalasia type

Ehlers-Danlos syndrome, arthrochalasia type is an inherited connective tissue disorder caused by defects in collagen, a protein important for normal tissue structure. People with this condition usually experience very loose joints and may also have fragile and stretchy skin as well as a risk for other connective tissue problems. Many individuals with this type of Ehlers-Danlos syndrome experience severe joint hypermobility, congenital hip dislocation, muscle weakness (hypotonia), and spinal curvature issues such as kyphoscoliosis. This condition is one of several types within the Ehlers-Danlos syndrome group, each having different levels of severity and specific symptoms.

Common symptoms include severe joint hypermobility, which means that the joints can move beyond the normal range. Other features often include congenital hip dislocation, fragile and hyperextensible (stretchy) skin, low muscle tone (hypotonia), and spinal issues such as kyphoscoliosis (a curvature of the spine).

This condition is caused by changes in the collagen protein. Specifically, mutations in the COL1A1 or COL1A2 gene lead to defects in the collagen produced by the body. Ehlers-Danlos syndrome, arthrochalasia type is inherited in an autosomal dominant manner, meaning that a mutation in just one copy of the gene can cause the disorder.

Treatment and management for Ehlers-Danlos syndrome, arthrochalasia type focus on preventing serious complications and relieving symptoms. Medical care typically involves supportive therapies and monitoring to address issues such as joint instability and other musculoskeletal complications.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.