Jacobsen syndrome

File:Https

https

Jacobsen syndrome (also known as 11q deletion disorder) is a rare congenital disorder caused by the deletion of a portion of chromosome 11. This condition is characterized by a variety of physical, developmental, and cognitive impairments.

Signs and Symptoms

Individuals with Jacobsen syndrome often present with a range of symptoms, which can vary widely in severity. Common features include:

• Intellectual disability and developmental delays
• Distinctive facial features such as a broad nasal bridge, downturned corners of the mouth, and a small lower jaw (micrognathia)
• Bleeding disorders, particularly Paris-Trousseau syndrome
• Heart defects, including congenital heart disease
• Growth retardation
• Skeletal abnormalities
• Eye problems, such as strabismus and ptosis
• Immune system deficiencies

Genetics

Jacobsen syndrome is caused by a deletion of genetic material on the long arm (q) of chromosome 11. The size of the deletion can vary, and larger deletions tend to result in more severe symptoms. The deletion typically occurs de novo, meaning it is not inherited from the parents but rather occurs as a random event during the formation of reproductive cells or in early fetal development.

Diagnosis

Diagnosis of Jacobsen syndrome is usually confirmed through genetic testing, such as karyotyping or fluorescence in situ hybridization (FISH), which can identify the deletion on chromosome 11. Prenatal diagnosis may also be possible through amniocentesis or chorionic villus sampling.

Treatment

There is no cure for Jacobsen syndrome, and treatment is symptomatic and supportive. Management often involves a multidisciplinary approach, including:

• Regular monitoring and treatment of heart defects
• Management of bleeding disorders
• Early intervention programs for developmental delays
• Special education services
• Physical, occupational, and speech therapy
• Regular eye examinations and treatment for vision problems

Prognosis

The prognosis for individuals with Jacobsen syndrome varies depending on the severity of symptoms and the presence of associated health issues. With appropriate medical care and support, many individuals can lead fulfilling lives, although they may require lifelong medical and developmental support.

Related Pages

• Chromosome 11
• Congenital disorder
• Genetic testing
• Intellectual disability
• Developmental delay
• Congenital heart disease
• Paris-Trousseau syndrome