Jacobsen Syndrome, also known as 11q deletion, is a congenital disorder that occurs due to a partial deletion of the terminal band on chromosome 11.
- Closely-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 (bilateral camptodactyly)
- Hammer Toes
In addition, patients tend to be shorter than average and have poor psychomotor skills.
Patients with this disorder tend to live out normal lives within the limitations of their disability (varies from person to person), though congenital heart disease that does not manifest itself until adulthood is common. There is a greater incidence of various forms of cancer among 11q- people. The vast majority of them have a bleeding disorder called Paris-Trousseau Syndrome, where they have reduced platelets and the platelets don't function as well. The number of platelets increases during childhood until it is at normal levels, but they still have poor clotting due to abnormal platelet function. Unless their platelet function has been tested and shown to be normal, they should be assumed to have a bleeding disorder.
National Center for Biotechnology Information
11q.org - Note: PDF file
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