Jacobsen Syndrome

By: Isabel Ashton

Jacobsen Syndrome

Jacobsen Syndrome is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11.

Symptoms and characteristics of Jacobsen Syndrome.

There is a distinctive facial appearance, and a variety of physical problems including heart defects and bleeding disorders.

Pictures of Jacobsen Syndrome

Questions over Jacobsen Syndrome

Is it fatal or life threatening?

Jacobsen Syndrome is life threatening because people can lose lots of blood just by a small cut or nose bleed. People with this syndrome are born with the symptoms.

How does a person get this syndrome? Is it genetically inherited?

It is not inherited through a family blood line, or genes, you are just born with the syndrome.

How many people are effected by this syndrome? Is it rare or common?

It is a very rare syndrome because only one out of one hundred thousand people are affected by the syndrome.
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Who discovered Jacobsen Syndrome and when was it discovered?

A Danish researcher discovered Jacobsen Syndrome in the year of 1973.

Interesting Facts Over Jacobsen Syndrome


  • It's beleived to occur every 1 out of 100,000 births.
  • The amount of chromosomes 11 differs but most people are missing about 5 million to 16 million DNA building blocks.
  • Jacobsen Syndrome is also known as 11q terminal deletion disorder.
  • Only about 200 affected individuals have been reported with this syndrome.
  • People with Jacobsen Syndrome have a large head size.