Diseases And Treatments

Apert Syndrome - What It Is, Causes and Treatments

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Apert Syndrome - What It Is, Causes and Treatmentsto cope with this condition. In additionApert Syndromeis characterized by specific malformation of the skull, as well as hands and feet, as well as several other functional alterations that vary greatly from individual to individual.

The fusion of the skull occurs prematurely and lacks the ability to develop normally, restricting brain growth and causing an increase in pressure (craniocinosidosis); the middle third of the face is retracted (sunken); the fingers and toes are fused (syndactyly) in degrees varied.THEApert Syndromeor acrocephalosyndactyly is a birth defect whereby a craniofacial anomaly develops due to the premature closure of the skull bones and fusion of the fingers and toes.

Causes of Apert Syndrome:THEApert Syndromeis 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.

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In almost all cases, theApert Syndromeis a genetic accident that occurs during gestation. It may be of hereditary origin, linked to an autosomal dominant gene or be a new sporadic mutation. The causes that produce this genetic mutation are unknown.

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Symptoms of Apert Syndrome:Defective gene in baby with thisApert Syndromeallows the bones of the skull to merge prematurely, a process called craniosynostosis.

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The brain continues to grow inside the abnormal skull, determining pressure on the bones of the skull and face. The abnormal skull and facial development inApert Syndromeproduce its main symptoms as:

  • Long head, with high forehead;
  • Large, bulging eyes, often with impaired closing eyelids;
  • Half-sunken face;
  • Abnormal skull growth;
  • Intellectual development is poor in some children withApert syndrome;
  • Obstructive sleep apnea;
  • Repeated ear infections or sinusitis;
  • Loss of hearing.

Abnormal fusion of the bones of the hands and feet is a common symptom ofApert Syndrome. Some children withApert Syndromealso have heart, gastrointestinal, or urinary problems.

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Treatment of Apert Syndrome:To correct the changes, 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.

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The sooner the surgery is performed, the better, since if intracranial hypertension is not treated, it can produce optic atrophy, blindness and apnea, as well as endangering the child's life.

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