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Rare Diseases 2023

SíCrouzon's syndrome: what é, main symptoms and treatment

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SíCrouzon's syndrome: what é, main symptoms and treatment
SíCrouzon's syndrome: what é, main symptoms and treatment

Crouzon syndrome, also known as craniofacial dysostosis, is a rare disease in which there is premature closure of the skull sutures, which leads to various cranial and facial deformities. These deformities can also generate changes in other body systems, such as vision, hearing or breathing, making it necessary to perform correction surgeries throughout life.

When suspected, the diagnosis is made through the genetic cytology exam that is performed during pregnancy, right at birth or during the first year of life, but is usually only detected at 2 years of age when the deformities show- if more pronounced.

Main symptoms

The characteristics of the child affected with Crouzon syndrome range from mild to severe, depending on the severity of the deformities, and include:

  • Skull deformities, the head takes on a tower-like appearance and the back of the neck becomes flatter;
  • Facial changes such as bulging eyes and wider than normal, wide nose, strabismus, keratoconjunctivitis, difference in pupil size;
  • Rapid and repetitive eye movements;
  • IQ below normal;
  • Deafness;
  • Learning difficulty;
  • Cardiac malformation;
  • Attention deficit disorder;
  • Changes in behavior;
  • Brown to black velvety patches on the groin, neck and/or under the arm.

The causes of Crouzon syndrome are genetic, but the age of the parents can interfere and increase the chances of the baby being born with this syndrome, because the older the parents, the greater the chances of genetic deformities.

Another disease that can cause symptoms similar to this syndrome is Apert syndrome. Learn more about this genetic disease.

How the treatment is done

There is no specific treatment that cures Crouzon's syndrome, and therefore the child's treatment involves performing surgeries to alleviate bone alterations, reduce pressure on the head and prevent alterations in the development of the shape of the skull and brain size, having both aesthetic effects and effects aimed at improving learning and functionality.

Ideally, surgery should be performed before the child is 1 year old, as bones are more malleable and easier to adjust. Furthermore, filling bone gaps with methyl methacrylate prostheses has been used in cosmetic surgery to smooth and harmonize the facial contour.

In addition, the child should undergo physical therapy and occupational therapy for some time.The objective of physiotherapy will be to improve the child's quality of life and lead him to psychomotor development as close to normal as possible. Psychotherapy and speech therapy are also complementary forms of treatment, and plastic surgery is also beneficial to improve the facial appearance and improve the patient's self-esteem.

Check out some exercises that can be done at home to develop the baby's brain and stimulate their learning.

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