APERT SYNDROME - Watsons Health

APERT SYNDROME

Apert syndrome is a genetic disorder that causes babies born with a distorted shape of the head and face. They also have other birth defects. Surgery can help some of the problems of this syndrome but it doesn’t have a cure.

Causes of Apert Syndrome

Apert syndrome is caused by a mutated gene that is normally responsible for guiding bones to join together at the right time during development.

Craniosynostosis is when the skull bones to fuse together prematurely in Aspert syndrome. As the brain continues to grow inside the abnormal skull, it puts pressure on the bones in the skull and face.

The abnormal skull and facial growth in Apert syndrome produce its main signs and symptoms:

  • A head that is long, with a high forehead
  • Wide-set, bulging eyes, often with poorly-closing eyelids
  • A sunken middle face

Other Apert syndrome symptoms also result from the abnormal skull growth:

  • Poor intellectual development (in some children with Apert syndrome)
  • Obstructive sleep apnea
  • Repeated ear or sinus infections
  • Hearing loss

Abnormal fusion of the bones of the hands and feet (syndactyly) — with webbed or mitten-like hands or feet — are also common Apert syndrome symptoms. Some children with Apert syndrome also have heart, gastrointestinal, or urinary system problems.

DIAGNOSIS

Apert syndrome can be suspected through the newborn’s appearance. Genetic testing can usually identify Apert syndrome or another cause of abnormal skull formation.

 

RECOMMENDED MEDICATIONS

Apert syndrome has no known cure. Surgery to correct the abnormal connections between bones is the main treatment for Apert syndrome.

Other Apert syndrome treatments include:

  • Eyedrops during the day, with lubricating eye ointment at night to prevent the dangerous eye drying that can occur.
  • Continuous positive airway pressure (CPAP); The machine delivers pressure that keeps the child’s airways open during sleep.
  • Antibiotics. Children with Apert syndrome are prone to ear and sinus infections.
  • Surgical tracheostomy, or placement of a breathing tube in the neck; this surgery may be done for children with severe obstructive sleep apnea due to Apert syndrome.
  • Surgical placement of ear tubes (myringotomy), for children with repeated ear infections due to Apert syndrome

Other surgeries may be beneficial for certain children with Apert syndrome, depending on their individual pattern of facial bone formation problems.

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