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Alperts Syndrome
[Corrected: Apert Syndrome]

What Is Apert Syndrome? (commonly misspelled as Alperts Syndrome)

Major Features of Apert Syndrome

*Prematurely fused cranial sutures
*A retruded midface
*Fused fingers
*Fused toes

Definition

Apert Syndrome is a genetic defect and falls under the broad classification of craniofacial/limb anomalies. It can be inherited from a parent who has Apert, or may be a fresh mutation. It occurs in approximately 1 per 160,000 to 200,000 (some sources claim as "common" as one in 50,000 to 65,000) live births. Apert syndrome is primarily characterized by specific malformations of the skull, midface, hands, and feet. The skull is prematurely fused and unable to grow normally; the midface (that area of the face from the middle of the eye socket to the upper jaw) appears retruded or sunken; and the fingers and toes are fused together in varying degrees. Apert syndrome is named for the French physician who first described it, E. Apert, in 1906.

For more information about Alperts Syndrome, please visit http://exalter.net/apert/apert.html


 

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