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.
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.