Dr. Grossfeld with one of his patients with congenital heart disease.
Jacobsen Syndrome is a rare genetic disorder caused by the loss of a part of the 11th human chromosome. The loss of this genetic material causes a number of significant problems that occur commonly in the general population including congenital heart defects, a congenital bleeding disorder, intellectual disability, autism, and immunodeficiency. Although Jacobsen syndrome is very rare, occurring in only about 1 in 50,000 live births, the insights gained from research on Jacobsen syndrome will help those in the general population that have these same problems.
If you know someone who has a child or loved one with Jacobsen syndrome please let them know about Dr. Grossfeld's research, as well as the 11q Research and Resource Group (11qusa.org), a support group for children and their families that have disorders of chromosome 11.