Jacobsen syndrome
Jacobsen syndrome is a rare genetic condition caused by a missing piece of DNA at the end of chromosome 11. It is called Jacobsen syndrome (JS) after the Danish researcher who first identified it in 1973. It is also known as 11q terminal deletion disorder.
It can lead to a variety of symptoms, including:
Unique facial features: Like a small head, widely spaced eyes, and a broad nose.
Heart problems: Some people are born with heart defects.
Weakened immune system: This can make it easier to get infections.
Learning difficulties: These can range from mild to severe, often with developmental delays.
Bleeding issues: There's a higher risk of unusual bleeding and bruising.
Jacobsen syndrome is quite rare, occurring in about 1 in 100,000 newborns. It's also the most common type of genetic disorder on chromosome 11. The severity of these symptoms can vary depending on how much of chromosome 11 is missing. Doctors usually diagnose Jacobsen syndrome through genetic testing.
Most cases of Jacobsen syndrome are not inherited but occur as a random event during the formation of reproductive cells or in early fetal development. However, in rare cases, it can be inherited from a parent who carries a balanced translocation, where part of chromosome 11 is rearranged but no genetic material is lost or gained.
While there is no proper cure for Jacobsen syndrome, treatment focuses on managing symptoms and improving the individual's overall health and well-being. This often involves a multidisciplinary approach, including:
Regular check-ups: With pediatricians, cardiologists, neurologists, and other specialists to monitor and manage various health issues.
Therapies: Such as physical, occupational, and speech therapy to help with developmental delays and improve motor and communication skills.
Medical management: For heart defects, bleeding disorders, and other medical conditions associated with the syndrome.
Most of the affected persons in our network have Jacobsen disease, but there are other syndroms associated with chromosome 11.