Summary

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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

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• 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 ]

Jacobsen Syndrome - Twitter Search

Researchers Identify New Gene Linked to Congenital Heart Defects http://tinyurl.com/ya7k6lh (Jacobsen Syndrome)
CHD_UK (CHD-UK) Sat, 19 Dec 2009 21:21:56 -0000
Researchers Identify New Gene Linked to Congenital Heart Defects http://tinyurl.com/ya7k6lh (Jacobsen Syndrome)
Heart Defects Present in Jacobsen Syndrome: Jacobsen Syndrome is a rare chromosome disorder t.. http://bit.ly/6cHSc4 #CHD #Heart #HLHS
chdbabies (kelly manz) Sat, 19 Dec 2009 03:09:11 -0000
Heart Defects Present in Jacobsen Syndrome: Jacobsen Syndrome is a rare chromosome disorder t.. http://bit.ly/6cHSc4 #CHD #Heart #HLHS

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