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