Apert syndrome. Childhood illnesses

Apert syndrome. Childhood illnesses

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The Apert syndrome It is a craniofacial anomaly, called Type I Acrocephalosyndactyly, which produces malformations in the skull, face, hands and feet.

There are also various functional alterations such as: increased intracranial pressure, cardio-respiratory problems, mental deficiency, blindness, hearing loss, otitis, among others.

Apert syndrome is a genetic defect that can be inherited from a parent or it can be a new mutation. It occurs approximately in 1 to 160 to 200 thousand live births.

The causes are in a mutation during the gestation period, in the fibroblast growth factors (FGFR2) that occurs during the gamete formation process. The causes of this mutation are unknown.

To fix these 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 done the better, since if the intracranial hypertension Left untreated, it can cause optic atrophy, blindness and apnea, in addition to putting the child's life at risk.

You can read more articles similar to Apert syndrome. Childhood illnesses, in the category of Children's Diseases on site.

Video: Apert syndrome (January 2023).