Crouzon syndrome

Crouzon syndrome's disease overview

Crouzon syndrome is a genetic pathological condition, including early consolidation of some skull bones. The early combination of skull bones that prevents the child's skull in normal development leads to deformations of the head and face. The early unity of the skull is a sign of a group of conditions called craniosynostoses.

Normally, stitches in the small skull are still open for the brain to grow. When these stitches close too early and the baby's brain continues to grow, the skull and face can be deformed. Signs of Crouzon syndrome can start in and the first month of a child's life and continue to progress until two and three.

Due to the early unity of the skulls, the child has Crouzon syndrome with large and convex eyes that generate vision and squinting problems. In addition, individuals with Crouzon syndrome tend to have certain problems about teeth as well as hearing disorders. Some people with this disorder also tends to have cleft palate and cleft palate. Crouzon syndrome does not affect the intelligence or the mental capacity of the individual is affected. Symptoms of Crouzon syndrome have different severity depending on each person.

Sexicular syndrome - face , also calling skull disruptive - face, is one of the large groups of birth defects including abnormal consolidation (greedy between a few skull and face). This consolidation does not let the bones grow normally, attack the shape of the head, the appearance of the face and the teeth. Crouzon is a doctor describing the patient with a typical group of deformities (syndrome) that was later monitored in other individuals.

Causes of Crouzon syndrome's disease

The main cause of Crouzon syndrome is the FGFR2 gene mutation. This gene has a protein producing function called the fiber 2 -cell receptor growth factor. This protein facilitates the growth of adult cells to become bone cells during development embryo, so when a mutant appears in the FGFR2 gene, the absence of proteins and adult cells cannot grow into bone cells, causing the adult skull to stick together, causing syndrome. Crouzon with related symptoms.

  • involves genetic change. This syndrome is caused by a mutant in the species of fiber growth of factor II, located on 10B gene chromosomes. (embryo) leads to early unified skull bone. Skull bone disorder - face is due to abnormalities in the gene. If both father and mother are normal, there is no symptoms of the syndrome, this abnormal is the result of changes in genetic matter at the time of conception. The exact cause of this change is still unclear. If the father or mother is affected, the abnormal genetic is genetic from that parent.

    Symptoms of Crouzon syndrome's disease

    The common symptoms of Crouzon syndrome are: abnormal face shape, forehead, high forehead, multiple connections in the skull, Arnold-chiari deformities, short-headed heads, cerebellum reduced, hearing impairment Constant, conjunctivitis, two eyes apart, the upper jaw decreases, increased the intracranial pressure, the middle of the sunken face, convex eyes, eyelids, sparkling eyes, pointed tip, bones and abnormalities, increased sharpness Skin energy, vision loss, posterior nose, curved nose, headache, brain effusion, skin pigmentation plaques, intellectual disabilities, iris defect Narrow, jaw stenosis, visual atrophy, respiratory failure, abnormal pharynx, ear canal, messy teeth, embryo cell tumor, skull -stick bone behind the neck, jaw protruding, sticking skull bone sugar In the middle of early, convulsions, shallow eye, sleep apnea, poor vision, inheritance of dominant trait genes, early skull -stick bone, bone development disorders.

    People at risk for Crouzon syndrome's disease

  • Parents have Crouzon syndrome; Great or old age of his father during pregnancy.

    • Prevention of Crouzon syndrome's disease

    There is no way to prevent crouzon syndrome. If Crouzon syndrome, or a family history of the disease, can talk to a genetic consultant when deciding to have children.

    Diagnostic measures for Crouzon syndrome's disease

    The diagnosis of Crouzon syndrome can be done easily when babies rely on babies characteristics with basic signs in the head shape. Because the types of malformations in the skull are also part of other disorders, the doctor may do other tests along with genetic tests to search for mutations in FGFR2 gene to diagnose Crouzon syndrome. To do this, children may have to go through radioactive shooting in the form of X-ray of the skull several times to search for bones sticking together. CT scan or MRI is also taken with a clearer image of the skull to check whether there is a liquid in the skull, the signs of the skull stick together or the pressure inside the skull to determine the diagnosis of the Association Crouzon.

    Crouzon syndrome's disease treatments

    There is no special treatment for Crouzon syndrome definitely, although with the progress of the medical industry, there are several treatments that can be used to treat this condition. The following methods:

  • For visual and hearing problems in Crouzon syndrome, glasses and hearing aids can be used to allow patients to look and hear more clearly. > Airways can be used to handle obstacles in the airway because it cleans the respiratory tract and allows patients with Crouzon syndrome to breathe normally. The therapy can be helpful in cases where patients with Crouzon syndrome have any signs of mental retardation.

    • In addition, there are surgical options Available to treat certain deformities caused by Crouzon syndrome. If diagnosed early, eye surgery can help patients get rid of vision issues caused by Crouzon syndrome. Similarly, ear surgery can help patients hear more clearly. Surgical selection to help hearing problems caused by Crouzon syndrome is known as internal ear surgery. Open trachea can be performed for patients with airway pressure problems and breathing problems caused by Crouzon syndrome.

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