ALDH18A1-related de Barsy syndrome

ALDH18A1-related de Barsy syndrome is a rare genetic condition that is characterized by intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity. These features may affect a person’s development, vision, and connective tissue, and they are noticeable early in life. This condition is linked to changes in the ALDH18A1 gene. It is one of several conditions known by similar names, each reflecting the core traits of the disorder. The combination of symptoms helps guide healthcare providers in understanding the condition and its impacts.

Common symptoms in people with this condition include intellectual deficits, the presence of bilateral cataracts which can affect vision, and skin and joint hyperlaxity, which means the skin and joints may be unusually loose.

ALDH18A1-related de Barsy syndrome is caused by changes in the ALDH18A1 gene. These genetic changes affect the normal function of the gene, leading to the symptoms seen with the condition. The condition is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the altered gene for the condition to be expressed.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.