Gourt > Health > Conditions and Diseases > Rare Disorders > Jacobsen Syndrome
Summary
Jacobsen Syndrome, also known as 11q deletion, is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1. It can cause mild mental retardation, 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 in 1973, and is believed to occur in approximately 1 out of every 100,000 births.
Physical Characteristics
- 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.
More on [ Jacobsen syndrome ]
The Fragile WEB Site - Includes a reference database, family support groups and clinical information.
Meta Description: [ The Fragile Web Site provides information on the chromosome deletion syndrome, Jacobsen syndrome (11q- syndrome) as a reference guide for both clinicians and the families of Jacobsen syndrome patients alike. ]
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