Apert Syndrome: Signs, Causes, Diagnosis, Treatment

Medically Reviewed by Dr. K on 12 April 2021

Table of Contents:

 

  1. Apert Syndrome
  2. Causes of Apert Syndrome
  3. Apert Syndrome Symptoms
  4. Apert Syndrome Diagnosis
  5. Apert Syndrome Treatments
  6. Apert Syndrome Complications
  7. Apert Syndrome Prognosis
  8. Takeaway

 

Apert Syndrome

Apert syndrome is a hereditary neurological disorder in which a newborn baby's skull joints close prematurely. The term is called craniosynostosis.

The fibrous joints in a newborn's skull usually remain open after birth to allow the baby's brain to develop. When these joints close too soon and the brain continues to expand, the baby's head and face become distorted. Pressure will build up within the baby’s brain.

The majority of babies with Apert syndrome have fingers and toes that are connected (syndactyly). The bones of the fingers and toes may be webbed or fused.

Apert syndrome is a rare condition. Just one out of every 65,000 to 88,000 babies is affected.

Causes of Apert Syndrome

 

A deficiency in the fibroblast growth factor receptor 2 (FGFR2) gene causes Apert syndrome. This gene instructs the development of a protein that signals the formation of bone cells in the womb.

An rise in the signals that encourage bone development is caused by a mutation in the FGFR2 gene. Which allows bones in the baby's head to shape and fuse too early.

The mutation occurs 95% of the time when the baby is growing in the womb. Babies are less likely to inherit a genetic alteration from their parents. A biological offspring of a parent with Apert syndrome has a 50% risk of inheriting the disorder.

Apert Syndrome Symptoms

The defective gene in Apert syndrome babies causes the skull bones to fuse prematurely, a condition known as craniosynostosis. The brain grows inside the abnormal skull, putting pressure on the skull and face bones.

The key signs and symptoms of Apert syndrome that caused by irregular skull and facial growth are:

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

The abnormal skull development also causes other Apert syndrome symptoms:

  • Poor intellectual development (in some children with Apert syndrome)
  • Obstructive sleep apnea (OSA) 
  • Repeated ear or sinus infection
  • Hearing loss
  • Crowded teeth as a result of jaw underdevelopment

Webbed or mitten-like hands or feet are also typical Apert syndrome signs, which is abnormal fusion of the bones of the hands and feet (syndactyly). Apert syndrome may cause problems with the heart, gastrointestinal system, or urinary system in some children.

Apert Syndrome Diagnosis

Some doctors frequently suspect Apert syndrome or another craniosynostosis syndrome due to the appearance of a newborn. Apert syndrome or another cause of unusual skull formation may normally be identified by genetic testing.

Apert Syndrome Treatments

There is no known cure for Apert syndrome. The primary treatment for Apert syndrome is a surgery to correct the abnormal bone connections.

In general, Apert syndrome surgery is divided into three stages:

  1. Dissolution of skull-bone fusion (craniosynostosis release).

    The abnormally fused skull bones are separated and partly rearranged by the surgeon. This surgery is typically performed on a child between the ages of 6 and 8 months.

  2. Midface advancement.  

    The facial bones of the child with Apert syndrome become misaligned again as the child grows. A surgeon cuts the jaw and cheeks and then, moves them forward into a more normal position. This surgery can be performed between the ages of 4 and 12. Additional corrective surgery may be required, particularly if midface advancement is performed at a young age.

  3. Wide-set eye correction (hypertelorism correction).

    A surgeon removes a wedge of bone from the skull between the eyes. The surgeon can also adjust the jaw when bringing the eye sockets closer together.

Other treatments for Apert syndrome include:

  • Eye drops during the day and lubricating eye ointment at night can help to prevent the dangerous eye drying that can occur with Apert syndrome.
  • Continuous positive airway pressure (CPAP); a child with Apert syndrome and obstructive sleep apnea may sleep with a mask connected to a small machine. The machine applies pressure to the child's airways while he or she sleeps.
  • Antibiotics. Children with Apert syndrome are prone to bacterial ear and sinus infections, which necessarily require antibiotic treatment.
  • For children with extreme obstructive sleep apnea due to Apert syndrome, surgical tracheostomy, or the insertion of a breathing tube in the throat, can be performed.
  • Surgical insertion of ear tubes (myringotomy) for children with Apert syndrome who have recurring ear infections.

Depending on the specific pattern of facial bone formation problems, other surgery may be beneficial for certain children with Apert's syndrome.

Complications

Complications in patients with Apert Syndrome can arise, such as:

  • vision problems
  • hearing loss
  • difficulty breathing
  • slower learning
  • short stature

Apert Syndrome Prognosis

Children with Apert syndrome normally require surgery to release the skull bones, allowing the brain to develop normally. The older a child is when this surgery is performed, the less likely he or she is to reach normal intellectual ability. However, even with early surgery, certain brain structures may remain underdeveloped.

Children who are raised by their parents have a better chance of attaining normal intellectual ability in general. Approximately four out of every ten children with Apert syndrome who are raised in a healthy family environment achieve a normal intelligence quotient (IQ). Only about one in every 18 children with Apert syndrome who are institutionalised, has a normal IQ. Three of 136 children with Apert syndrome eventually attended college, according to one study.

Children with Apert syndrome and other similar conditions with normal IQs do not appear to be at a higher risk of behavioural or emotional problems. However, in order to cope with their condition, they may require additional social and emotional support. Children with Apert syndrome who have lower IQs frequently struggle with behavioural and emotional issues.

Children with Apert syndrome can be varied widely in severity, with some severely affected and others only mildly affected. Experts are perplexed as to why the same gene mutation can cause such disparities in a child's Apert syndrome prognosis.

The life expectancy of children with Apert syndrome varies as well. Those with Apert syndrome who survive childhood and do not have heart disease will most probably live a normal or near-normal life. Due to the progress in surgical and follow-up care, life expectancy is likely to improve.

Takeaway

 

At birth, Apert syndrome may alter the form of a baby's skull and face. It may also trigger symptoms such as respiratory difficulties and learning difficulties.

Many of these issues will now be addressed by surgeons, allowing children with Apert syndrome to live independently. However, when they become older, certain children may need additional assistance in education and in everyday life.

Sources

Referenced on 10.4.2021

  1. https://www.webmd.com/children/apert-syndrome-symptoms-treatments-prognosis
  2. van der Vlugt, J. Plastic and Reconstructive Surgery, 2008; vol 124: pp 2054-2060.
  3. eMedicine: “Apert Syndrome."
  4. Wilkie, A. American Journal of Medical Genetics, 2007; vol 143A: pp 1941-1949.
  5. Cohen, M. American Journal of Diseases of Children, 1993; vol 147: pp 989-993.
  6. https://www.healthline.com/health/apert-syndrome#causes 
  7. Apert syndrome. (2017).
    ghr.nlm.nih.gov/condition/apert-syndrome – diagnosis
  8. Apert syndrome. (n.d.).
    faces-cranio.org/Disord/Apert.htm
  9. Apert syndrome. (2007).
    rarediseases.org/rare-diseases/apert-syndrome/
  10. Apert syndrome. (n.d.).
    seattlechildrens.org/medical-conditions/chromosomal-genetic-conditions/apert-syndrome/
  11. Apert syndrome. (2015).
    gosh.nhs.uk/medical-information/apert-syndrome
  12. Apert syndrome. (2014).
    orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=87

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