Jacobsen Syndrome

By Kallie McQuiggin

What is Jacobsen Syndrome?

Jacobsen Syndrome is an in born condition with many birth defects. The syndrome occurs when genetic material is missing from chromosome 11, which can affect over 340 genes critical to the normal bodily development.

Symptoms of Jacobsen

Jacobsen syndrome is an intellectual disability from mild to moderate, thoughts or emotions might take longer than other children. It takes longer for a child with Jacobsen to learn, its difficult to adapt to new situations and have trouble seeing how things or events related to each other. They're language development may be delayed.

Fatal? Early or Later in life?

Jacobsen is not fatal or life threatening. They find out that you have Jacobsen at birth or very early in life.

How do you get Jacobsen? Rare or common?

Jacobsen is a mutation, its caused by a loss from chromosome 11q terminal deletion disorder. 1 in 100,000 newborns get Jacobsen syndrome. It is very rare.

Who discovered it?

Dr. Petra Jacobsen discovered it in 1973.

Interesting facts

More than 90% of people with Jacobsen syndrome have a blood disorder called Paris Trousseau syndrome

Is genetic testing important?

I think genetic testing is a good idea because the parents will know how to raise their child and know the challenges they might have raising their child if they know that they have Jacobsen syndrome. Jacobsen makes your brain slower. Learning takes longer for kids with Jacobsen. Its harder for kids with it to adapt to new things and new situations. The parents of a kid that have it might want to know if they're kid has it to know that raisng the child will be different and might be harder.