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Jacobsen Syndrome

Jacobsen Syndrome Definition

Jacobsen syndrome is a medical condition categorized as a very rare chromosomal disorder with the absence of chromosome 11q. It can be the cause of mild mental retardation, a characteristic facial appearance, and many medical problems like heart ailments and bleeding disorders. Generally, it affects numerous phases of mental and physical advancement.

Jacobsen Syndrome Diagnosis

Diagnosis of Jacobsen syndrome is usually undertaken after birth through chromosome analysis; an infant who is suspected for having the disorder because of distinctive facial appearance is requested to submit for a blood test.

Jacobsen Syndrome Symptoms and Signs

People suffering from Jacobsen syndrome is prone to developing a condition known as strabismus, which is defined as misalignment of the eye that causes both eyes to look at different directions. Low-set, warped ears, short up-turned nose (anteverted nostrils), inward bound thin lips, epicanthus or folding of the skin close to the eye are some of the facial manifestations of Jacobsen syndrome. Hammer toes may possible suggest Jacobsen syndrome; hammer toes is the term used to describe middle joint misshapenness of the second, third, or fourth toe wherein the toes are bent, assuming the look of a hammer. Mental retardation and cognitive dysfunction along with delayed motor skills are probable for patients with Jacobsen syndrome.

Jacobsen Syndrome Treatment

There is no cure for Jacobsen syndrome and there is no therapy available to restore or return any missing gene from the rubbed out portion of chromosome 11. The good thing is there are some management approaches that intend to lessen several critical health effects in connection with Jacobsen syndrome.

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