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
Other Names: 11q deletion disorder
For more information on Jacobsen syndrome, visit Genetic and Rare Diseases (GARD) Information Center
For more information on rare genetic diseases, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/