Jacobsen syndrome is a rare genetic disorder that affects mental and physical development, caused by a chromosomal abnormality. Symptoms include developmental delay and physical abnormalities. Testing can occur before birth, but there is no cure and lifelong specialized medical care is needed. It affects one in 100,000 people, with a quarter of children dying before the age of 2. Symptoms include facial deformities, developmental delays, and internal organ conditions. Regular visits to specialists are necessary for treatment.
Jacobsen syndrome is a rare genetic disorder that affects a person’s mental and physical development. It is caused by a chromosomal abnormality. Developmental delay and some physical abnormalities are the main symptoms of the condition. With modern medicine, testing for the condition can occur before birth using amniocentesis. Because there is no cure, an individual with Jacobsen syndrome needs a lifetime of specialized medical care.
Jacobsen syndrome affects one in 100,000 people. Up to 75% of these cases are women. 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. Furthermore, it is not yet known whether parental genetics or environmental factors cause the syndrome to appear.
Although Dr. Petra Jacobsen discovered the syndrome that bears her name in 1973, it would be many years before medical science determined how the syndrome works. After the development of genetic testing, it was discovered that those with Jacobsen syndrome lack much of the genetic material that makes up chromosome 11. This large deletion of genetic material is solely responsible for the symptoms caused by the syndrome.
A large number of specific symptoms made it possible to diagnose Jacobsen syndrome before the advent of genetic testing. Symptoms evident from birth are facial deformities including wide-set eyes, epicanthal folds, small chin, and upturned nostrils. If your child lives beyond the age of 2, they will have developmental delays in both cognition and physical growth. Internal organ conditions such as congenital heart disease and kidney disorders are also common. These life-threatening symptoms will only get worse as the child gets older.
Parents concerned that their child has Jacobsen syndrome can test for the disorder by asking their doctor to perform an amniocentesis while pregnant. Collecting amniotic fluid allows your doctor to test for many genetic conditions that could be affecting your baby at the same time. If the test is positive for the syndrome or another disorder, parents generally have the option of terminating the pregnancy or beginning preparations for raising a child who will need lifelong specialist medical care.
To keep a child with Jacobsen syndrome as healthy as possible, regular visits to a pediatrician and a number of specialists are necessary. These specialists will be able to monitor symptoms affecting internal organs and body development. While nothing can cure Jacobsen syndrome, treating its physical symptoms early ensures that your child has the best possible quality of life.
Protect your devices with Threat Protection by NordVPN
