Jacobsen

Jacobsen syndrome is a rare congenital disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a variable condition that can affect many parts of the body. The severity of the symptoms and the associated complications can vary greatly from one person to another.

Signs and Symptoms

Jacobsen syndrome is characterized by intellectual disability, distinctive facial features, and a variety of physical abnormalities. The most common features include preauricular pits, eye coloboma, heart defects, and Paris-Trousseau syndrome, a bleeding disorder.

Causes

Jacobsen syndrome is caused by a deletion of genetic material from the long (q) arm of chromosome 11. The size of the deletion varies among affected individuals. Studies suggest that specific regions of chromosome 11 are associated with particular features of Jacobsen syndrome.

Diagnosis

Diagnosis of Jacobsen syndrome is based on a clinical examination, detailed patient history, and a variety of specialized tests. These tests can include genetic testing, echocardiogram, and complete blood count (CBC).

Treatment

Treatment of Jacobsen syndrome is symptomatic and supportive. It may include physical therapy, occupational therapy, special education, and/or medications.

Prognosis

The prognosis for individuals with Jacobsen syndrome varies depending on the presence and severity of health problems. Life expectancy may be affected by the presence and severity of heart defects.

Epidemiology

Jacobsen syndrome affects approximately 1 in 100,000 newborns. It affects females slightly more often than males.

See also

• Chromosome 11 (human)
• Genetic disorder
• Congenital disorder

External links

• Genetics Home Reference: Jacobsen syndrome
• National Organization for Rare Disorders: Jacobsen syndrome

Jacobsen Resources
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