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What is Jacobsen Syndrome?

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  • Written By: T. Broderick
  • Edited By: Heather Bailey
  • Last Modified Date: 15 September 2016
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Jacobsen syndrome is an uncommon genetic disorder affecting a person's mental and physical development. It is caused by a chromosomal abnormality. Developmental delay and certain physical abnormalities are the primary symptoms of the condition. With modern medicine, testing for the condition can occur before birth using amniocentesis. As there is no cure, an individual with Jacobsen syndrome needs a lifetime of specialized medical care.

Jacobsen syndrome affects one person out of every 100,000. Up to 75% of these cases are female. These figures are rough estimates. What is certain is that a quarter of all children born with the syndrome die before the age of 2. Also, it is still unknown whether the parents' genetics or environmental factors cause the syndrome to occur.

Though Dr. Petra Jacobsen discovered the syndrome bearing his name in 1973, it would be many years until medical science determined how the syndrome works. After the development of genetic testing, it was discovered that those with Jacobsen syndrome lack a large part of the genetic material that makes up chromosome 11. This large deletion of genetic material is solely responsible for the symptoms brought on by the syndrome.

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A large number of specific symptoms made it possible to diagnose Jacobsen syndrome before the advent of genetic testing. The symptoms evident from birth are facial deformations including wide-spaced eyes, epicanthal folds, a small chin and upturned nostrils. If the child lives past the age of 2, he or she will have developmental delays in both cognition and physical growth. Conditions of the internal organs such as congenital heart disease and kidney disorders are also common. These life-threatening symptoms will only compound as the child grows up.

Parents concerned that their child has Jacobsen syndrome can test for the disorder by having their doctor perform an amniocentesis during pregnancy. The collection of amniotic fluid allows a doctor to simultaneously test for many genetic conditions that could affect the child. If the test is positive for the syndrome or another disorder, parents generally have the options of either terminating the pregnancy or beginning preparation for raising a child who will need a lifetime of specialized medical care.

To keep a child with Jacobsen syndrome as healthy as possible, regular visits to a pediatrician and a number of specialists are required. These specialists will be able to monitor for symptoms that affect the internal organs and bodily development. Though nothing can cure Jacobsen syndrome, treating its physical symptoms early assures that the child has the best quality of life possible.

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anon308115
Post 4

What is the current status of research on this disorder?

burcinc
Post 3

@turkay1-- I'm sorry to hear about your family's loss. I'm glad your sister and her husband are having tests done. I think recurrence of the syndrome depends on which part of chromosome 11 is missing. Sometimes recurrence risk is almost none and sometimes it's up to 50%. So you're right, they definitely need to know if they're planning on having more kids.

It's even possible to know this before birth now. Aside from amniocentesis, there is also something called fluorescent in-situ hybridization (FISH), that can determine exactly which part of chromosome 11 is missing.

I don't think there is much research on environmental factors right now though.

candyquilt
Post 2

My sister gave birth to a baby girl two months ago who was diagnosed with Jacobsen syndrome. Unfortunately, she passed away two weeks after her birth while she was still in the hospital and under treatment for a blood issue.

My sister is devastated because she did not get a amniocentesis during her pregnancy and had no idea that her baby had this. She is now preparing to have genetic testing done for herself and her husband to see if they passed on the syndrome to their daughter. It's important for them to know this because they plan to have more children.

Aside from it being a hereditary disease, do we know what kind of environmental factors can cause this syndrome? Does it have anything to do with exposure to dangerous chemicals and things like that?

ysmina
Post 1

Chromosomal disorders like Jacobsen syndrome still baffle me even though I've heard about them many times. It's fascinating and scary how an extra chromosome, or a missing part of a chromosome can have such a huge affect on a person's mental and physical health.

I'm so glad that technological and medical advancement now gives us the option to diagnose this before birth. I hope no one ever has to face the decision of keeping or terminating a baby that has Jacobsen syndrome. It must be such a tough decision and experience to go through.

Of course, I respect all parents' decisions about this, but I think it's best to terminate such a pregnancy. Especially because many children with the syndrome die before the age of 2, I think it's easier and less painful for both the parents and the child not to go through this.

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