Apert Syndrome: A Comprehensive Guide

What is Apert Syndrome?

Apert Syndrome is a physical deformity that is mainly visible in the skull, face, hands and feet. Often referred to as the pharyngeal arch syndrome, this disorder starts to occur during the development of the fetus and is visible in babies right after their birth.

The effects are quite long lasting and widespread. Since this disorder was first reported in detail by French physician Eugene Apert, the disorder is called so.

apert syndrome

What Causes This Disorder?

During fetal development there are selective cells in hand and feet and these cells die so that the fingers and toes can be separated. But in some very rare cases this division fail to occur and that result in con-joined skin and at times the bones between the fingers and toes are also joined.

The same situation arises between the skull and the face. There have been cases where the skull and facial bones have fused causing this disorder.

Symptoms and Causes of Apert Syndrome

In most cases the symptoms are clearly visible and with time the signs become more prominent. You can see that the baby develops:

  • a long head and a high forehead
  • a sunk middle face
  • bulging eyes

Some of the effects of this disease are:

  • mitten like hands/feet
  • low intelligence
  • ear infections and hearing defect
  • obstructive sleep apnea
  • urinary complication
  • heart disorder

How You Can Treat Apert Syndrome

Unfortunately there is no medicine that can cure Apert Syndrome. The only way to cure this deformity is by surgery. Many steps are involved in this kind of surgery. Here are some of them

  • Separate skull bone fusion: The surgeon separates and rearranges the skull bones when the baby is 6 to 8 months old.
  • Mid-face enhancement: As the baby grows, her face takes shape and by the age of 5 the doctor cuts her jaw and cheek bones to give her face a proper contour.
  • Correction of wide set eyes: This is the final stage where her eyes are properly set. The doctor brings the eye sockets closer and removes the wedge between the eyes.
  • Nasal surgery: This surgery corrects the excessively thickheaded nasofrontal angle, often the ptotic nasal tip and the flat nasal dorsum.

 Medical Management options to combat Apert syndrome

  •  For eyes – To protect the cornea, you have to pour in ointments to lubricate the eyes before bed time and that will protect the corneas from desiccating. Artificial teardrops are also prescribed for the day time.
  • For nose – The upper airway obstruction is a common trouble in this syndrome and that should be well prevented during the neonatal stage itself. You can use nasal drops that will help to remove the nasal secretions and keep airway open. Doctors often prescribe topical nasal decongestants to aid in free breathing.
  • For ears – Middle ear gives a blocked and ringing feeling all the time; this can be dealt with antimicrobial therapy aptly.

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