Jacobsen Syndrome

By: Caleb Byrd

physical affects

The eyes are wide-set, their eyelids are droopy, skin covers the inner corner of the eye, they have a broad nasal bridge, They have a V-shaped mouth, Their lower jaw is smaller, and their ears are small and low set. Their ears are also ratted backwards. This disease mainly affects the physical appearance of the head.

Symptoms

Someone with Jacobsen syndrome may have heart disease, heart failure, kidney defects, gastrointestinal abnormalities, eating difficulties, frequent infections of the ear, sinusitis, and respiratory system. They also may have genitalia abnormalities. Patients with Jacobsen syndrome are likely to have ADHD and autism.

Cause of the disorder

Jacobsen syndrome is caused by the deletion of several genes on chromosome number eleven. In most people with Jacobsen Syndrome one chromosome 11 is intact and normal but the end of the long arm of the other is missing.

How Jacobsen Syndrome inherited

Jacobsen syndrome is not sex linked. It is located on chromosome 11. Jacobsen syndrome is neither dominate or recessive because it is not inherited.

How Jacobsen Syndrome is treated

There is no cure for Jacobsen syndrome. Surgery may be required to fix malformations. Infants may need heart surgery if there are major cardiac defects. Specific orthopedic inventions help Jacobsen syndrome patients overcome their poor muscle tone. After therapies, patients can learn to write, operate computers, dress themselves and feed themselves.

How Jacobsen Syndrome is diagnosed

It is usually diagnosed at birth or early childhood. Blood platelet dysfunction and facial dysmorphism are signs of the condition. Parental diagnosis is possible by using cytogenetic analysis. By doing this there is a chance for a miscarriage.

How many and what type of people are likely to have Jacobsen Syndrome

Jacobsen Syndrome is a very rare condition. Only 1 in 100,000 newborns are affected. There are about twice as many female are born with the condition as males. it does not affect any certain race because it is strictly chromosomal.

Application of research

I learned what Jacobsen syndrome was. I learned how it was more common in females and that it was very rare. It is usually diagnosed at birth. They may require surgery if there is major cardiac defects.
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Story on Jacobsen Syndrome
11q Research and Resource Group