Apert Syndrome – What is it, Causes and Treatments

Apert Syndrome – What is it, Causes and  Best Treatments to deal with this condition. In addition, Apert Syndrome is characterized by specific malformation of the skull, as well as hands and feet, in addition to several other functional changes that vary greatly from individual to individual.

The fusion of the skull occurs prematurely and does not have the capacity to develop normally, restricting the growth of the brain and causing an increase in pressure in the brain (craniocinostosis); the middle third of the face is retracted (sunken); fingers and toes are fused (syndactyly) to varying degrees.

Apert Syndrome or acrocephalosyndactyly is a birth disorder in which a craniofacial anomaly is presented due to premature closure of the bones of the skull and fusion of the fingers and toes.

Causes of Apert Syndrome: Apert  Syndrome is caused by a rare mutation in a single gene (FGFR2), which is responsible for fibroblast growth factors. Fibroblasts guide the union of bones at a certain point in their development.

In almost all cases, Apert Syndrome is a genetic accident that occurs during pregnancy. It can be of hereditary origin, linked to an autosomal dominant gene or be a sporadic new mutation. The causes that produce this genetic mutation are unknown.

Symptoms of Apert Syndrome:  The defective gene in a baby with this Apert Syndrome allows the bones of the skull to fuse prematurely, a process called craniosynostosis.

The brain continues to grow inside the abnormal skull, putting pressure on the bones of the skull and face. The abnormal skull and facial development in Apert Syndrome produce its main symptoms such as:

  • Long head, with high forehead;
  • Eyes bulging, wide, often with impaired closing lids;
  • Half sunken face;
  • Abnormal growth of the skull;
  • Intellectual development is poor in some children with Apert Syndrome;
  • Obstructive sleep apnea ;
  • Repeated ear or sinus infections;
  • Hearing loss .

Abnormal fusion of the bones in the hands and feet is a common symptom of Apert Syndrome . Some children with Apert Syndrome also have heart, gastrointestinal, or urinary system problems .

Treatment of Apert Syndrome:  To correct the alterations, several surgical interventions are required to decompress the intracranial space, improve respiratory function, allow normal development and prevent the different brain areas from being affected.

The sooner the surgery is performed, the better, since if intracranial hypertension is not treated, it can produce optic atrophy, blindness and apnea , in addition to putting the child’s life at risk.

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