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Apert Syndrome – Causes, Symptoms and Treatment, Alternates, you must Know

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Apert syndrome is actually a genetic defect which leads to an unusual growth of the skull. Infants with Apert syndrome have distorted the shape of the face and head. Several children are also born with other birth defects due to Apert syndrome. There is no treatment for Apert syndrome but surgery can be helpful to correct some of the defects.

Symptoms

Most of the facial features with Apert syndrome result from premature mutation of skull bones. The head is no longer able to grow in the normal way and it causes wide-set eyes and bulging, beaked nose, underdeveloped upper jaw going to crowded teeth, and sunken appearance in the mid of face. Vision problems are also common because of shallow eye sockets. Early fusions of skull bones are also responsible for affecting brain development and it can disrupt your intellectual development. In people with Apert syndrome, cognitive abilities can be normal or moderate or mild. You may also experience intellectual disability.

Apert Syndrome

People with Apert syndrome are likely to have fused or webbed toes and fingers. The severity of fusion may vary at least 3 digits on both hands and feet are fused with each other. In severe cases, all the toes and fingers are fused. In rare cases, people with this disorder may have extra toes or fingers. Some other signs are loss of hearing, unusual or heavy sweating, patches of missing hair in eyebrows, oily skin and severe acne, recurrent ear infections and fusion of spinal bones in the neck. They may be linked to opening the mouth’s roof.

Causes

Rare mutation on the FGFR2 gene is the main cause of Apert syndrome. This gene is responsible for producing fibroblast growth factor receptor 2, a protein in the body. This protein helps immature cells turn into bone cells in embryonic development. Mutation in a particular part of this gene hinders the protein and leads to the prolonged signaling. Hence, it enhances premature bone fusion in hands, skull and feet. It affects only one of 65000 babies born.

This protein is responsible for bone growth in the body as it makes immature cells develop embryo and become bone cells in your feet, head, hands and other tissues. There are various versions of FGFR2 and some specific patterns are found in the tissues of the body and such patterns are likely to change throughout development and growth.

Diagnosis

Doctors often diagnose craniosynostosis syndrome or Apert syndrome at birth due to the appearance of the infant. Genetic testing can also help diagnose this condition.

Treatments

This condition doesn’t have any common cure. Surgery can correct the usual connections between bones. It is the main cure for this condition. There are generally three steps to provide surgery for Apert syndrome –

  • The release of craniosynostosis (skull bone fusion). The skull bones which are abruptly fused are separated by the surgeon. Then some of them are partially rearranged. Usually, this surgery is performed in the babies that are 6 to 8 months old.
  • Correction of hypertelorism (wide-set eyes). A wedge of bone between the eyes is removed by a surgeon. This procedure involves bringing the eye sockets closer and the jaw may also be adjusted.
  • Midface advancement. As the child grows with this condition, the facial bones get misaligned. This way, the bones in the cheeks and jaw are cut and brought ahead into a normal position. One can get the surgery done at any time when the child is 4 years old or 12 years old. You may need to go through another corrective surgery, especially when it is done at a younger age.

Other Treatments

  • Eye drops. Doctors may recommend lubricating eye ointment to apply at night. It is helpful to avoid severe eye drying which is likely to occur in this condition.
  • Consistent positive airway pressure or CPAP. A child with obstructive sleep apnea and Apert syndrome may need to wear a mask while sleeping. It is connected to a small machine.
  • The machine puts pressure which keeps the airways of child open when they sleep.
  • Antibiotics – Kids suffering this condition are prone to sinus and ear infections that are caused by bacteria and it needs antibiotic therapy.
  • Placement of breathing tube on the neck or surgical tracheostomy. This surgery can be recommended for kids suffering severe obstructive sleep apnea in this condition.
  • Surgical myringotomy (ear tubes) placement for kids suffering repeated ear infections because of Apert syndrome.

Other surgeries which are beneficial for some kids with Apert syndrome usually depend on upon their specific pattern of facial bones.

Apert Syndrome caretricks

Prognosis

Kids with Apert syndrome basically need to undergo surgery to release skull bones so the brain can develop in a normal way. The older the child is before performing the surgery, the lower the chances to get the normal ability. There are certain brain structures which are badly developed even with early surgery.

Kids who are raised with support from their parents are more likely to achieve normal IQ level. Around four in ten children with this condition who are living in a healthy environment in their family can reach normal intellectual activity. In a study on children with Apert syndrome who are institutionalized, just one in 18 children achieved intellectual ability. Around 3 in 136 affected children attended college eventually.

Kids with Apert syndrome and other such conditions who have normal intelligence levels are not likely to have a higher risk of emotional or behavioral problems. But they may need more emotional and social support in order to deal with their condition. Kids with lower IQ and Apert syndrome also have emotional and behavioral stress.

There is huge variability between some severely affected children, kids with Apert syndrome and some mildly affected ones. Experts are still confused why the mutation of the same gene can cause such variations in the prognosis of a child.

In addition, life expectancy also differs from children with this condition. Children suffering Apert syndrome who don’t have heart problems and survived past childhood are likely to have near-normal and normal life expectancy. Follow-up care and technical advances are also responsible for improving life expectancy.

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