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General Practice 2023

SíApert syndrome

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SíApert syndrome
SíApert syndrome

Apert Syndrome is a genetic disease characterized by a malformation of the face, skull, hands and feet. The bones of the skull close prematurely, leaving no room for the brain to develop, causing excessive pressure on it. In addition, the bones of the hands and feet are glued together.

Causes of Apert Syndrome

Although the causes of the development of Apert syndrome are not known, it develops due to mutations during the gestation period.

Characteristics of Apert Syndrome

The characteristics of children born with Apert syndrome are:

  • increased intracranial pressure
  • mental disability
  • blindness
  • hearing loss
  • otitis
  • cardiorespiratory problems
  • renal complications
glued toes

Fingers glued together

Source: Centers for Disease Control and Prevention

Life expectancy of Apert syndrome

The life expectancy of children with Apert syndrome varies according to their financial condition, as several surgeries are necessary during their lifetime to improve respiratory function and intracranial space decompression, which means that the child who does not have these conditions may suffer more due to complications, although there are many adults alive with this syndrome.

The goal of treatment for Apert syndrome is to improve your quality of life, as there is no cure for the disease.

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