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Apert Syndrome

About

Apert syndrome is a condition that causes abnormal growth of the head, face, hands and feet. During pregnancy, the skull bones join together too early, which prevents them from growing normally. As a result, the area between the bottom of the eyes and jaw are often underdeveloped, making the eyes appear more prominent. Webbed fingers and toes are also common in children born with Apert syndrome.

Causes

1 in 65,000 to 88,000 children are born with Apert syndrome(1). Apert syndrome is a genetic disorder, which means it's caused by changes (mutations) in a gene(s). Genes, which are passed from parents to children, determine a person's traits, including appearance and growth. Mutated genes can be inherited from a parent, caused by environmental factors or occur randomly.

(1) National Library of Medicine's Genetics Home Reference

Impact o​n a child

Because Apert syndrome affects the growth of the head, face, hands and feet, there are a range of symptoms, which may include (but are not limited to):

  • Underdevelopment of the mid-face
  • Protruding eyes
  • Webbed or fused fingers and toes (syndactyly)
  • Extra fingers or toes (polydactyl)
  • Cleft palate (palatoschisis)
  • Ear infections
  • Hearing loss
  • Impaired vision
  • Increased sweating (hyperhidrosis)
  • Intellectual disability (ranging from normal to moderately severe)

Treatment

Many of the symptoms of Apert syndrome can be treated. Our team works with our patients and their families to a develop treatment plan that address each patient’s specific needs. Treatment plans for patients with Apert syndrome often include surgeries to correct the shape of the head and face, as well as the webbing/fusion of the fingers and toes.

Resources

SOURCE: Apert Syndrome ( )
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