What is Jacobsen's syndrome?
Jacobsen syndrome is an unusual genetic disorder affecting the mental and physical development of man. This is caused by chromosomal abnormality. The primary symptoms of the condition are developmental delays and certain physical abnormalities. In modern medicine, the testing may occur before birth with amniocentesis. Since there is no medicine, an individual with Jacobsen syndrome needs lifelong specialized medical care. Up to 75% of these cases are women. These numbers are gross estimates. It is certain that a quarter of all children born with the syndrome died before 2 years. It is also not known whether parents or environmental factors cause the syndrome to occur. After the development of genetic testing, they showed that those with Jacobsen syndrome lack a large part of the genetic material, which is chromosome 11. This high deletion of genetic material is solely responsible for symptoms caused by syndrome.
A large number of specific symptoms made it possible to diagnose Jacobsen's syndrome before the advent of genetic testing. Symptoms evident from birth are facial deformations, including wide -fold eyes, epicantal folds, small chin and inverted nostrils. If a child lives at the age of 2 years, it will have a developmental delay in both knowledge and physical growth. The conditions of internal organs, such as congenital heart disease and renal impairment, are also common. These life -threatening symptoms will only be merged with how the child grows up.
Parents feared that their child had Jacobsen syndrome, they can test their physician during pregnancy. The collection of amniotic fluid allows doctors at the same time to test many genetic conditions that could affect the child. If the test is positive for syndrome or other disorder, parents generally have the possibility of ending pregnancy or initial preparation for the child's education that will need lifelong specialized doctorsLooking.In order to keep the child with Jacobsen syndrome as healthy as possible, regular visits to the pediatrician and many specialists are required. These experts will be able to monitor symptoms that affect internal organs and physical development. Although nothing can cure Jacobsen's syndrome, healing its physical symptoms soon ensures that the child has the best possible quality of life.