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Apert Syndrome – Symptoms, Causes, Treatment

What is Apert Syndrome ?

Apert syndrome is a congenital disorder wherein there is a premature combination of skull bones. Thus, the incident inhibits the skull from growing normally and it affects the shape of the face and head of an individual. This premature fusion of skull bones is called as craniosynostosis. Not only tha, there are also malformations of the hands and feet. This makes Apert syndrome a classification of acroscephalosyndactyly- which means a malformation in the skull bones and the fusion of finger and toes (syndactyly).


It was Eugene Apert, a physician from France who first described the condition in 1906. He described 9 individuals who shared the same characteristics that is present in patients with Apert syndrome. And until today, this is a very rare condition wherein it only affects 1 person per 160,000 to 200,000 live births. And as of today, mostly Asians have the highest prevalence of Aspert syndrome wherein 23.3 cases are tallied per million of live births and the Hispanics have the lowest percentage with 7.6 cases per million live births.

Most of the time, mortality will account to such complications like obstruction of the upper airway in infants and sleep apnea is a common problem for Apert patients. Also, patients are at risk for developing increased intracranial pressure because of the premature closure of the fontanels.

Apert Syndrome Symptoms

Craniosynostosis

The condition wherein there is an abnormal closure of the baby’s head that happens earlier than the normal. This leaves no room for the head to grow and causes an abnormally shaped head. Not only is Apert syndrome associated with craniosynostosis but there are other conditions as well like Crouzon syndrome, Carpenter syndrome, Chotzen and Pfeiffer syndrome. Because of this, a child with Apert syndrome will have the following facial features:

  1. Prominent forehead
  2. Flat or concave face
  3. Bony orbits
  4. Spaced eyes
  5. Low set ears
  6. Depressed nasal bridge with a parrot-beaked appearance
  7. Prominent mandible, cleft palate

Syndactyly of both hands and feet

  1. Fursion of two or three fingers or toes on both sides
  2. Synonychia or fusion of two or more nails of the same digits
  3. Big thumb and toe but malformed
  4. Joints would grow but it appears to be immovable.

Apert Syndrome Causes

Apert syndrome is cause by genetic mutations of the FGFR2. This gene is responsible for producing the protein fibroblask groth factor receptor 2. If there is a mutation of this gene, it promotes the premature fusion or combination of the bones in the skull, hands and feet.

Apert syndrome is not a hereditary disease since it results from the new mutation of the genes of both mother and father. However there are still arguments that when a person has Apert syndrome, there is still a possibility of passing a defective gene over the next generations.

Apert Syndrome Treatment

Since Apert syndrome is a genetic problem, there are genetic tests done by physicians to know the specific gene that causes the problem. genetic tests are usually taken by blood samples and it will be sent over the laboratory to further studies.

Imaging studies will also be done. for instance, skull radiography is done to further evaluate the craniostenosis. Physicians will see the abnormalities in the suture lines like the bony bridging, beaking, indistinct suture lines and even shallow orbits. Limb radiography is also evaluated where they can see short humeri, abnormalities of the bones in the hands and feet. CT scans and MRIs are suggested to have a better view of the affected cranium and extremities.

When diagnosed with Apert syndrome, patients should receive the treatments like:

Surgery

  • Cranial surgery which removes the sutures or the fontanels and reshape the calvaria of the head. This helps the child have a normal cranial development and have a better bone quality, shape and volume of the face. It also relieves problems of increasing intracranial pressure. Although the child is still young, surgeons can still perform the surgery as early as 3 months as long as the baby is healthy and stable.
  • Nasal surgery can also be done to reconstruct the excessive nasofrontal angle. And as the child grows older, theor nasal tip bulk can be reduced.
  • Midfacial and mandibular surgery is also indicated to improve the midfacial appearance of the child and expansion of the nasal airways to avoid upper respiratory tract obstruction. The mandible will also be reconstructed for better mastication or chewing and aesthetic purposes as well.
  • Shunts will also be placed to avoid increase in intracranial pressure

Medical concerns

  1. Protecting the cornea – Since there is a shallow orbit, the doctors are concerned with the eyes especially protecting the cornea. Ointments to lubricate the eyes especially before sleeping is prescribed by doctors and eye drops will also be prescribed during daytime.
  2. Airway obstruction in the neonatal period – This is crucial since neonates cannot express their feelings. To avoid obstruction which can result to death, nasal secretions should be removed and humidifiers with oxygen should be used. if there are upper respiratory tract infections, it should be treated right away.

Consultations

If a child develops problems like nasal congestion, delayed mental growth and others, they need to see their physicians right away so that they will be referred to appropriate specialists concerning the patient’s complications of chief complaint.

Emotional support for the family

Having a rare condition can lead to anxiety especially the parents. It is crucial that the health care team will talk to the family and explain in simple words the mechanism of the condition as well as the possible complications. It helps that they will know what to expect so that it won’t produce panic attacks. And assuring that the health care team or physician is ready to help and assist the family will also put lesser stress to them.

Support groups

Since Apert syndrome is a rare condition, there are only few support groups available. doctors can refer the family to other families who has a family member with Apert syndrome as well. and for more information, questions and perhaps forums on the condition, they can always contact the Genetic and Rare Disease Information Center.

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