Jacobsen Syndrome

Also known as 11q deletion disorder By: Chase Hickey

Causes

This syndrome happens because of genetic material missing from the 11th chromsome. This then affects over three hundred forty genes that are crucial to normal body development. It is caused by a mistake when the cells are reproducing while the baby is still in the womb. More than twice as many females are born with this disease than males are. The disease is very rare, affecting only 1 in 100,000 newborns.

Symptoms / Effects

Jacobsen Syndrome causes many facial deformities, which may include the following:


  • Wide Set Eyes
  • Droopy Eyelids
  • V-Shaped mouth
  • Smaller Lower Mouth


It also has other common issues which are:


  • Heart defects
  • Kidney defects
  • Eating difficulties
  • Frequent ear infections

Treatments / Outlook

So far there are no known cures for Jacobsen Syndromes. But treatments will be able to help with some of the symptoms. Care for newborns need specialists like Pediatricians, neurologists, and ophthalmologists. Surgeries can be done on the facial features to help with the deformities that come with the disease. Heart surgery will also be done and the patient will be given antibiotics as well. Blood problems are monitored frequently and transfusions may be necessary for surgeries.


Nearly 20% of all kids born with jacobsen syndrome die even before the age of 2. Most of the deaths being caused by the heart problems from the disease. Very few patients have lived into adulthood.