Specialty Medical genetics ICD-9-CM 758.3 DiseasesDB 31957 | ICD-10 Q93.5 OMIM 147791 MeSH D054868 | |
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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.
Signs and symptoms
Characteristics may include
In addition, people 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.
One study also found less than half of the participants with Jacobsen syndrome were also diagnosed with an autism spectrum disorder.