Read about apert syndrome medical facts: what is the definition of apert syndrome, what are the signs and symptoms, medical treatment & how to treat apert syndrome, information about the causes, and related apert syndrome diseases.

Definition: What is "Apert syndrome"?


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 & mandible. Apert syndrome causes lasting & widespread effects to individuals because branchial arches are important in the fetus development.

Symptoms & Signs

The most apparent effects of Apert syndrome is cranial malformations. Apert syndrome is characterized by a high & 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 & 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 & 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 & big toes are usually malformed & broad. As patients age, the joints will continue to grow, but will remain immovable.

Treatment: How to Treat "Apert syndrome"?

To avoid suture closing in the skull & prevent damages to brain development, surgery is necessary. A combination of orthognathic & 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.


Some studies show that Apert syndrome occurs in an "autosomal dominant mode" for both males & 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.

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