What is Apert syndrome?

  1. Overview
  2. Symptoms
  3. Causes
  4. Incidence
  5. Diagnosis
  6. Treatment
  7. Outlook
Apert syndrome is a rare genetic disorder that causes a fetus' facial and skull bones to fuse together too early in its development.

Apert syndrome causes facial and skull abnormalities, which can lead to visual impairments and dental problems. Apert syndrome can also cause abnormalities in the fingers and toes.

This article will provide an overview of Apert syndrome, including the symptoms, treatments, and outlook for this condition.

What is Apert syndrome?


Apert syndrome may cause syndactyly, or fusing of the fingers or toes.
Image credit: Gzzz, (2016, January 14.)

Apert syndrome is a condition where the bones of the skull fuse together too early, which affects the shape of the head and face.

People born with Apert syndrome may experience problems with their vision and teeth because of the abnormal shape of the facial and skull bones.

In many cases, three or more fingers or toes also fuse together, which is called syndactyly.

Apert syndrome is a genetic disorder. It usually appears with no family history of the syndrome, but it can also be inherited from a parent.

Symptoms

Characteristic symptoms of Apert syndrome include:

  • a cone-shaped skull, known as turribrachycephaly
  • a face that is deep-set in the middle
  • eyes that are wide and bulge outwards
  • a beaked nose
  • an underdeveloped upper jaw, which can cause the teeth to become crowded

The facial and skull abnormalities can lead to some health and development problems. If not corrected, vision problems often occur as a result of shallow eye sockets. The upper jaw is usually smaller than average, which can lead to dental problems as the child's teeth grow.

With Apert syndrome, the skull is smaller than usual, which can put pressure on the developing brain. People with Apert syndrome may have an average level of intellect, or a mild to moderate intellectual impairment.

Children born with Apert syndrome often have webbed fingers and toes. Most often, three fingers or toes are fused together, but sometimes a whole set of fingers or toes may be webbed. Less commonly, a child may have additional fingers or toes.

Additional signs and symptoms of Apert syndrome include:

  • hearing loss
  • severe acne
  • heavy sweating
  • fusion of spinal bones in the neck
  • oily skin
  • missing hair in the eyebrows
  • growth and development delays
  • recurrent ear infections
  • a cleft palate
  • mild to moderate intellectual disabilities

Causes


Apert syndrome is a genetic condition caused by a mutation in a specific gene.

Apert syndrome is a birth abnormality caused by a mutation of the FGFR2 gene. This can occur in babies with no family history of the disorder, or they can inherit it from a parent.

The FGFR2 gene produces a protein called fibroblast growth factor receptor 2. This protein has many important roles in a fetus' development, including a key role in signaling bone cell development.

When this gene mutation occurs, FGFR2 continues to signal for longer than usual, leading to early fusion of the skull, facial, feet, and hand bones.

Mutations to the FGFR2 gene can also cause several other related disorders, including:

  • Pfeiffer syndrome
  • Crouzon syndrome
  • Jackson-Weiss syndrome

Frequency and inheritance

Apert syndrome is an extremely rare condition. The number of people who have it is not known, and estimates vary between sources.

The U.S. National Library of Medicine estimate that it affects 1 in 65,000 to 88,000 newborns, and the National Organization for Rare Disorders (NORD) estimate that the figure is closer to 1 in 165,000 to 200,000 births.

Most cases of Apert syndrome appear with no previous family history of the disorder. However, the NORD also report that when one parent has the disorder, the child will have a 50 percent chance of developing it. This statistic applies to each pregnancy.

This syndrome appears to affect males and females equally.

Diagnosis

Apert syndrome can often be diagnosed at birth or at an early age.

To formally diagnose a person with Apert syndrome, a doctor will look for the characteristic bone abnormalities affecting the head, face, hands, and feet.

A doctor may perform a skull radiograph or CT scan of the head to determine the nature of the bone abnormalities. Molecular genetic testing may also be used to help with diagnosis.

Treatment


A treatment plan will be tailored to the individual, and may include surgery to relieve pressure on the brain, or reshape facial features.

Treatment of Apert syndrome will vary between individuals. A doctor will often work closely with the person and their family to develop a plan for treating their symptoms.

In some cases, a doctor may recommend surgery to reduce the pressure on the person's brain.

Other surgical options are also possible, for instance, to reshape facial features, or to separate fused fingers or toes.

A child with Apert syndrome will require life-long observations and checkups. A doctor will check for additional complications caused by Apert syndrome and suggest appropriate treatments.

Common treatments for Apert syndrome-related complications include:

  • correcting vision issues
  • therapies to address developmental and growth delays
  • dental procedures to correct crowded teeth

Outlook

Early diagnosis in babies will improve the chances of successfully treating some of the symptoms and complications of Apert syndrome.

Apert syndrome often does not affect a person's life expectancy, although heart problems or other associated conditions can lead to complications.

The long-term outlook for people with Apert syndrome is improving along with advances in modern medicine.

Treatment can often improve the overall outlook for a person with Apert syndrome.

A child with Apert syndrome should receive ongoing clinical care. This may include therapy to help a child and their family to cope with the daily challenges of this syndrome.



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