Other Names:  11q deletion disorder

Jacobsen Syndrome is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1. It can cause intellectual disabilities, a distinctive facial appearance, and a variety of physical problems including heart defects and a bleeding disorder. The syndrome is believed to occur in approximately 1 out of every 100,000 births. People with Jacobsen syndrome tend to be shorter than average and have poor psychomotor skills. Characteristics may include

  • Heart defects
  • Intellectual disabilities
  • Low-platelets
  • Facial/skeletal
  • Wide-set eyes caused by trigonocephaly
  • Folding of the skin near the eye
  • Thin lips that curve inward
  • Displaced receding chin
  • Low-set, misshapen ears
  • Permanent upward curvature of the pinkie and ring fingers

 

Contact the Genetic and Rare Diseases (GARD) Information Center for more information on Jacobsen Syndrome.