Apert Syndrome, Recognize the Signs and Handling Steps

Apert syndrome is a genetic disorder that interferes with bone formation. Apart from hindering the growth of perfect bones, this condition also affects the function of various organs or parts of the body, such as the brain, eyes, ears and hands.

Apert syndrome is a very rare condition. Initially, Apert syndrome is characterized by the closure of the fontanel on the baby's skull before the age of 2 years or also known as craniosynostosis. This condition leaves the baby's brain with no room to develop.

Apert Syndrome, Recognize the Signs and Handling Steps

In the process, the baby's brain, which continues to try to grow, will push against the skull and the surrounding area so that the structure and function of the head, face and ears are also affected. In addition, babies with Apert syndrome will experience various symptoms of brain development disorders.

Signs of Apert Syndrome

There are several signs experienced by babies with Apert syndrome , namely:

1. Facial deformities

Facial deformities experienced by babies with Apert syndrome include:

  • The face is concave in the middle
  • The nose looks like a bird's beak
  • Front wrinkled
  • Cleft palate
  • Teeth that grow irregularly and fall out easily

2. Eye deformities

Apert syndrome sufferers also have eye deformities, such as:

  • Protruding eyes
  • Wide eyes
  • The direction of the eyeball is not the same
  • Shallow eye cavity

Eye deformities also cause visual disturbances or decreased quality of vision.

3. Abnormalities in ear structure

Abnormal development of facial and head structures also causes sufferers of Apert syndrome to experience decreased hearing function, even recurring ear infections. This is due to the abnormal shape and structure of the ear.

4. Disorders of intellectual development

Craniosynostosis also affects brain development which can interfere with intellectual development. As a result, children with Apert syndrome can experience thinking difficulties and limitations in learning.

5. Syndactyly or polydactyly

Children born with Apert syndrome usually experience syndactyly, which is when two or more fingers or toes are fused together. Although it rarely happens, polydactyly or the presence of additional fingers can also occur in children with Apert syndrome.

6. Elbow or shoulder bone disorders

Some people with Apert syndrome also have abnormalities in the elbow or shoulder bones that limit their movement and function, such as writing, throwing a ball, and crawling. Abnormalities of the shoulder or elbow can occur on one or both sides of the body.

7. Sleep apnea

Children with Apert syndrome also usually experience sleep apnea, which is a condition when the throat muscles are too relaxed so that they block the airways. This condition causes temporary stopping of breathing and reduces oxygen intake during sleep.

In addition to the signs above, children with Apert syndrome also experience excessive sweating or hyperhidrosis, severe acne, airway obstruction, and no eyebrow hair.

Handling for Apert Syndrome

Apert Syndrome has various signs and symptoms, so treatment steps need to be adjusted to the complaints experienced by sufferers. The treatment given includes:

  • Eye drops, for use during the day and eye ointment cream at night to prevent dry eyes which are common in children with Apert syndrome
  • Antibiotics , if a child with Apert syndrome has a bacterial infection in the ear
  • Ear drum surgery (myringotomy), for Apert syndrome children who experience recurrent ear infections
  • CPAP therapy, to treat sleep apnea
  • Tracheostomy surgery, if sleep apnea is severe enough

Surgery or other treatment may be needed according to the age and severity of the condition experienced by the sufferer of Apert syndrome. For example, surgery to treat craniosynostosis is recommended by doctors in newborns. This aims to support brain development.

The age of the child when the operation is performed generally affects brain development as well as intellectual abilities. The older the child is at the time of surgery, the lower the chance of achieving normal intellectual abilities.

Although surgery can help develop the brain and prevent intellectual disorders in children, this method must also be supported by good parenting and emotional support.

With these various disorders, caring for and accompanying a child with Apert syndrome is indeed not an easy thing. You have to be patient and routinely check your health to the doctor so that his condition is always monitored.

Label : Health cat_Health

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