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Apert syndrome



Apert syndrome Causes


Some studies show that Apert syndrome occurs in an “autosomal dominant mode” for both males and females. Most cases of Apert syndrome are sporadic, suggesting that they are associated with genone environmental insults or fresh mutations. A parent with Apert syndrome is likely to pass on this condition to the offspring. Studies show that the risks of Apert syndrome increase with age of the father. It is suggested that older fathers are more likely to experience mutations in the sperm's chromosomes.


Apert syndrome Definition


Apert syndrome is a congenital disorder commonly known as “acrocephalosyndactyly”. This disorder is classified as a “branchial arch syndrome”, which affects the first branchial arch, responsible for the maxilla and mandible. Apert syndrome causes lasting and widespread effects to individuals because branchial arches are important in the fetus development.


Apert syndrome Symptoms and Signs


The most apparent effects of Apert syndrome is cranial malformations. Apert syndrome is characterized by a high and prominent forehead with flat posterior skull. When the suture of the skull closes prematurely, an increase in cranial pressure sometimes result in mental deficiency. However, not all patients with Apert syndrome experience this because some develop normal intelligence. Apert syndrome can also cause low-set ears, shallow bony orbits, broadly spaced eyes and concave or flat face due to the deficient growth in the bones of middle part of the face. The major features of Apert syndrome is the syndactyly of hands and feet. Patients usually develop fused fingers or toes with an equal amount on both sides. The most common occurrence of this fusion occurs in the three middle fingers. The thumbs and big toes are usually malformed and broad. As patients age, the joints will continue to grow, but will remain immovable.


Apert syndrome Treatment


To avoid suture closing in the skull and prevent damages to brain development, surgery is necessary. A combination of orthognathic and orthodontic surgery could relieve facial deformities. A common surgical procedure used for Apert syndrome patients is LeFort III, a method used in detaching the mid-face from the rest of the skull.


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