Jacobsen syndrome

Disease Overview

Jacobsen syndrome is a condition characterized by the deletion of several genes on chromosome 11. Signs and symptoms vary among affected people but often include Paris-Trousseau syndrome (a bleeding disorder); distinctive facial features; delayed development of motor skills and speech; and cognitive impairment. Other features may include compulsive behavior; attention deficit-hyperactivity disorder (ADHD); congenital heart defects; short stature; and/or skeletal abnormalities. In most cases, the deletion that causes Jacobsen syndrome is not inherited and occurs randomly due to an error in cell division. In some cases, an affected person inherits the deletion from an unaffected parent with a balanced translocation. Treatment depends on the specific symptoms in each affected person.[2549]

Synonyms

• JBS
• Chromosome 11q deletion syndrome
• Partial 11q monosomy syndrome