Apert Syndrome is a rare genetic disease that affects the skull, face, hands and feet, caused by a genetic mutation that leads to an early closure of the baby’s skull bones, still in the womb, leaving no room for the brain develops, causing excessive pressure on it, as well as deformities in the hands or feet.
This syndrome, also known as acrocephalosyndactyly, causes the child to be born with specific characteristics, such as a pointed top of the head, glued or intertwined toes or fingers, and intellectual disabilities may also exist.
Apert syndrome is diagnosed by the pediatrician and treatment is usually done with surgery to correct the joint of the bones, and improve the quality of life.
Symptoms of Apert Syndrome
The main symptoms of Apert syndrome are:
- Elongated or pointed head;
- High and wide forehead;
- Eyes bulging and further apart than usual;
- Eyelids poorly closed;
- flattened face;
- Small nose;
- Glued fingers or toes;
- Short or flat thumb;
- Finger stiffness;
- Arched and narrow roof of the mouth;
- cleft palate;
- Delayed growth of teeth;
- open bite;
- Crowded or crowded teeth;
- Fusion of the vertebrae of the neck, bones of the arm or wrist.
In addition, Apert syndrome can lead to increased intracranial pressure, intellectual disabilities, breathing problems, difficulty swallowing and eating, sleep apnea, blindness, frequent chronic ear or sinus infections, as well as kidney, gastrointestinal, or heart complications. .
How to confirm the diagnosis
The diagnosis of Apert syndrome is made by the pediatrician through a physical examination of the baby and evaluation of the family history of the syndrome.
In case the symptoms are not clear and there is no family history of the syndrome, the pediatrician may order tests such as X-ray, magnetic resonance imaging or computed tomography of the skull, to detect craniosynostosis, which is the fusion of the bones of the skull, as well as the increase in of intracranial pressure.
In addition, the doctor may order a molecular genetic test to check for the mutation in the FGFR2 gene, to confirm the diagnosis of Apert syndrome.
Apert syndrome is caused by a genetic mutation in the FGFR2 gene, which is responsible for the production of fibroblasts, which are important for guiding the joining of bones at the right time of pregnancy, resulting in premature fusion or joining of the bones of the skull in the baby at a young age. uterus, and changes in the bones of the hands and feet.
This mutation in the FGFR2 gene can occur by chance, with an increased risk of occurring with advanced paternal age.
How is the treatment done?
The treatment of Apert syndrome should be done under the guidance of a multidisciplinary team, including a pediatrician, pediatric neurosurgeon, craniofacial surgeon, plastic surgeon, ophthalmologist, dentist, otolaryngologist and speech therapist, for example, to perform one or more surgeries to correct the fusion of bones, and thus improve respiratory function, swallowing, speech, in addition to relieving intracranial pressure.
In addition, your doctor may recommend using medication to treat other symptoms, such as an ear infection, sinusitis, or problems with your kidneys, heart, or gastrointestinal system.
The life expectancy of children with Apert syndrome varies with the severity of symptoms, and the faster diagnosed and started treatment, the lower the risk of complications and the better the child’s quality of life.
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