Apert Syndrome: History, Symptoms, Causes, Treatment, Complications and Overview

It is a group of congenital hereditary malformations characterized by craniosynostosis, among others.


Apert syndrome is a rare congenital disorder. Eugene Apert first described this syndrome in 1906. It is caused by a defect in the receptor two fibroblast growth factor genes on chromosome 10.

It is an autosomal dominant disorder or, more commonly, due to a mutation in the fibroblast growth factor receptor two gene (FGFR 2). It is characterized by the early union of the coronal suture that provides a typical deformity of the skull and face and the hands and feet.

It occurs in 1 in 200,000 to 1 in 160,000 live births, but its incidence is 1 in 65,000. It is characterized by the prominent and prominent brow of the occiput, the flat or concave face due to the premature union of the coronal suture, and the deficient growth of midfacial bones to the mandibular prognathism.

The patient also has a shallow orbit that causes some degree of proptosis and hypertelorism. They may be accompanied by fusion of cervical vertebra, especially C5-6, and other visceral, skeletal anomalies of the central nervous system.

The main difference with Curzon syndrome is that it is accompanied by syndactyly (congenital or accidental fusion) in the hands and feet.

The proper treatment is the operation within the first year of birth to stop the early fusion of the coronal suture. Otherwise, the intracranial pressure will increase. They have difficulty breathing and cause sleep apnea and mouth breathing.


They usually have a middle ear infection that results in a certain degree of deafness and may also have some degree of visual loss.

They are mentally subnormal and have teething problems. Its height is shorter than the general population due to the short extremities, but not as fast as achondroplasia.

Those who survive with or without some coronal suture surgery need a maxillofacial surgeon to advance the front facial and half facial part of the skull to correct proptosis (protrusion of the eyeball) and for cosmetic reasons.

Syndactyly has to be operated by stages within 1-2 years of age by hand or with a plastic surgeon for the operation of the hand, especially the thumb and little finger. The syndactyly of the feet is usually left alone.

What is Apert syndrome?

Apert syndrome is a rare genetic condition in which the joints of a newborn baby’s skull close too soon. This is called craniosynostosis.

Usually, the fibrous joints in a newborn’s skull remain open after birth to allow the baby’s brain to grow.

When these joints close too soon, and the brain continues to grow, it pushes the baby’s head and faces in a distorted way. The pressure can also build up inside the baby’s skull.

Children develop this syndrome due to a genetic mutation. The mutated gene creates a protein that tells immature cells to turn into bone cells. This promotes the fusion of bones in the feet, hands, and skull.

Most babies with Apert syndrome have connected fingers and toes (syndactyly). The fingers and toes can be palmed or fused into the bone.

Apert syndrome is rare. It affects only 1 in 65,000 to 88,000 babies. Most children who develop Apert syndrome did so due to a new mutation in one of their genes and had no other family members affected by the syndrome.

However, it is possible to pass the condition to the next generation.


Apert syndrome is a rare genetic disorder that causes the facial and cranial bones of the fetus to fuse too early in its development.

Apert syndrome causes facial and cranial anomalies, which can cause vision and dental problems. Apert syndrome can also cause abnormalities in the fingers and toes.

Babies with Apert syndrome have an atypical head and face. Your leader can be:

  • Pointed at the top is a cone-shaped skull known as turribraquicephalia.
  • Face longer, more than usual.
  • Narrow head
  • Width from side to side.
  • Crushed in the back.
  • Pushed in the forehead.

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

People born with Apert syndrome may experience problems with their eyes and teeth due to the abnormal shape of the facial bones and skull.

In many cases, three or more fingers also fuse, called syndactyly.

Apert syndrome is a genetic disorder. It usually appears without a family history of the syndrome, but it can also be inherited from a father. Other symptoms may include:

  • Eyes are bulging and wide that are distinguished towards the outside.
  • Eyes crossed.
  • Aquiline nose.
  • Face sunken.
  • Flat nose.
  • A pointed nose.
  • Small upper jaw
  • Sub-bite an undeveloped upper jaw, which can cause the teeth to tighten.
  • Teeth together or unequal.
  • Fingers of the hands, toes, or index, middle and ring finger, webbed or fused.
  • Other fingers and toes.
  • Fingers of the hands and short and wide toes.
  • Severe joints in the fingers and toes.
  • Accelerated sweating (hyperhidrosis).
  • Severe acne, oily skin.
  • Lack of hair patches on the eyebrows (lack of hair on the eyebrows).
  • Opening in the palate or roof of the mouth (cleft palate).
  • Noisy breathing
  • Hearing loss and hearing, frequent ear infections.
  • Delays in growth and development, and consequently develop mild to moderate intellectual disability.

Facial and cranial anomalies can cause some health and development problems. If left uncorrected, vision problems often occur due to shallow eye sockets.

The upper jaw is usually smaller than the average, which can cause dental problems as the child’s teeth grow.

With Apert syndrome, the skull is smaller than usual, putting pressure on the developing brain.

People with Apert syndrome may have an average level of intellect or mild to moderate intellectual impairment. Children born with Apert syndrome often have palms and webbed fingers.

In most cases, three fingers of the hands or feet are fused, but sometimes a whole set of fingers and toes can be palmed. Less often, a child may have extra fingers and toes.

Causes of Apert syndrome

Apert syndrome is caused by a mutation in the receptor 2 gene of fibroblast growth factor (FGFR2). This gene provides instructions for creating a protein that indicates the formation of bone cells while the baby is in the womb.

A mutation in the receptor two genes of fibroblast growth factor leads to an increase in signals that promote bone formation. This causes the bones to form and fuse too early in the baby’s skull.

About 95 percent of the time, the mutation occurs randomly while the baby develops in the womb.

Less often, babies can inherit a father’s genetic change. A father with Apert syndrome has a 50 percent chance of passing the condition to a biological child.

Mutations in the fibroblast growth factor receptor two genes can also cause many other related disorders, including:

  • Pfeiffer’s syndrome.
  • Crouzon’s syndrome.
  • Jackson-Weiss Syndrome.

Frequency and inheritance of Apert syndrome

Apert syndrome is a low condition. The number of people who have it is unknown, and the estimates vary according to the sources.

The US National Library of Medicine UU estimates that it affects 1 in every 65,000 to 88,000 newborns. The National Organization for Rare Disorders (NORD) estimates that the figure is closer to 1 in 165,000 to 200,000 births.

Most cases of Apert syndrome appear without a prior family history of the disorder. However, the National Organization of Rare Disorders also reports that when one parent has the disease, the child will have a 50 percent chance of developing it.

This statistic applies to each pregnancy. This syndrome seems to affect men and women equally.


Apert syndrome can often be diagnosed at birth or a young age.

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

A doctor may perform a skull x-ray or a CT scan of the head to determine the nature of the bone abnormalities. Molecular genetic tests can also be used to help with the diagnosis.

Doctors can sometimes diagnose Apert syndrome while the baby is still in the womb by one of these methods:

Fetoscopy: the doctor places a flexible endoscope in the mother’s uterus through her belly. This scope can be used to observe the baby and remove blood and tissue samples.

Ultrasound: This test uses sound waves to create an image of the baby in the womb.

The doctor can confirm that the baby has Apert’s syndrome after birth through genetic tests or these imaging tests:

Computed tomography (CT) scan: This test takes a series of x-rays from different angles to create detailed images of the baby’s body.

Magnetic Resonance Imaging (MRI): This test uses powerful magnets and radio waves to take pictures inside the baby’s body.

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

A doctor may recommend surgery to reduce pressure on the person’s brain in some cases.

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

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

Common treatments for complications related to Apert syndrome include:

  • Correct vision problems
  • Therapies to deal with the delay in development and growth.
  • Dental tactics to fix and correct clenched teeth.

Babies with Apert syndrome may need to see many different specialists. Your team of medical specialists can include:

  • A pediatrician.
  • A surgeon.
  • An orthopedist (a doctor who treats problems in the bones, muscles, and joints).
  • An ENT (a doctor who treats problems with the ears, nose, and throat).
  • A cardiologist (a doctor who treats the functioning and issues in the heart).
  • A hearing specialist.

Some babies may need surgery in the first months of life. This may include surgery to:

  • Relieve the pressure or drain the accumulation of fluid ( hydrocephalus ) inside the skull.
  • It opens the bones of the head and gives the baby’s brain space to grow.
  • Reshape the baby’s face to create a more rounded and even appearance.
  • Move the jaw bones and look to improve the appearance and help with breathing.
  • Correct and separate webbed fingers and sometimes also correct the toes.
  • Remove, remove or remove teeth that are too assembled or together.

Children with developmental delays may need additional help to stay in school. They may also need help with daily activities.


Apert syndrome can cause complications such as:

  • Eyesight problems.
  • Hearing loss.
  • Difficult breathing
  • Slow learning
  • Short stature.

Panorama of Apert Syndrome

The prognosis for babies with Apert syndrome depends on how severe the condition is and what body systems it affects.

Apert syndrome can be more severe if it affects a child’s breathing or the pressure grows inside the skull, but these problems can be corrected surgically.

Children with Apert syndrome often have learning difficulties. Some children are affected more severely than others.

Because the severity of Apert syndrome can vary widely, it isn’t easy to make predictions about life expectancy. This condition may not significantly affect a child’s life expectancy, particularly if they do not have heart defects.

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

Apert syndrome does not usually affect a person’s life expectancy, although heart problems or other associated conditions can cause complications.

The long-term prognosis for people with Apert syndrome improves along with advances in modern medicine.

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

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

My son was diagnosed with Apert syndrome.

What decisions can I make or take as a parent to help my child?

Receiving a medical diagnosis, no matter how serious, can be frightening. Fortunately, your child’s doctor can develop a treatment plan to help your child.

In many hospitals, specialists such as plastic surgeons, speech therapists, and doctors in otolaryngology (ENT) work together to develop a plan that works for your family.

If your child requires surgery, there are two common types for children diagnosed with Apert syndrome: repair of endoscopic craniosynostosis and surgery to repair open craniosynostosis.

The repair of endoscopic craniosynostosis is a procedure that uses a small scope and leaves minimal scars. It is a shallow risk procedure with a quick recovery time.

Open craniosynostosis repair surgery is also low risk but involves a larger incision. The purpose of these surgeries is to separate the fused bones.

Although there is no type of care plan for a child with Apert syndrome, the goal of your child’s doctor is to repair the affected bones with as few procedures as possible.

Children with Apert syndrome lead fun and satisfying lives, similar to those of their typical developmental partners, but require additional medical attention to ensure the proper development of their bones.