Girl with Jacobsen syndrome
|Classification and external resources|
Jacobsen Syndrome, also known as 11q deletion disorder, 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 was first identified by Danish physician Petra Jacobsen, and is believed to occur in approximately 1 out of every 100,000 births.
- Heart defects
- Mild to severe intellectual disabilities
- Low-platelets (thrombocytopenia)
- Facial/skeletal (dysplasia)
- Wide-set eyes caused by trigonocephaly
- Folding of the skin near the eye (epicanthus)
- Short, upturned nose (anteverted nostrils)
- Thin lips that curve inward
- Displaced receding chin (retrognathia)
- Low-set, misshapen ears
- Permanent upward curvature of the pinkie and ring fingers (camptodactyly)
- Large great toes/Hammer toes
In addition, patients tend to be shorter than average and have poor psychomotor skills.
The majority of Jacobsen syndrome cases are not familial in nature, resulting from a spontaneous mutation occurring in a single parental gamete. However, some instances of familial disease resulting from local chromosome fragility or an unbalanced translocation have been described.
- European Chromosome 11 Network - Support group for patients with chromosome 11 disorders, their families and relatives
- 11Q Research & Resource - U.S.-based support group for patients with chromosome 11 disorders, their families and relatives
- Orthoseek - Specializes in pediatric orthopedics and pediatric sports medicine