Apert syndrome is a rarely found genetic disorder in newborn babies in which facial and skull bones fuses together in the early phase of its development. The early joining of baby skull is known as craniosynostosis. The abnormalities caused by Apert syndrome can lead to dental problems, abnormalities in fingers and toes and visual impairment. The syndrome affects the shape of the face and head which may develop problems in their vision and teeth development. The bones of fingers and toes are seen to be fused and look like webbed fingers of frogs. Further, there would be severe developmental delay and mental retardation in the individuals affected with apert syndrome. Heredity is the main cause for getting this disorder and the progeny has chances to get this syndrome even if one of the parents has been affected. In some individuals the closing of sutures can be observed as separate line in the skull region. The eyes are bulging and large, the ears are large and the patient will be of less height. Many times, three or more fingers or toes are also fused and this condition is known as syndactyly.
Apert Syndrome Causes
It is a genetic disorder and inherited from parents. It does not need any family history to occur in babies. It affects 1 baby out of around 88000 babies. The mutation in the FGFR2 gene causes Apert syndrome in babies. Actually, the FGFR2 gene produces fibroblast growth factor receptor 2 (a protein) which plays a crucial role in fetus development and signaling bone cell development. The mutation in FGFR2 gene produce this signaling for the longer duration than usual, which leads to the early fusion of the facial, skull, feet, and hand bones. The mutation in FGFR2 gene also causes some other disorders, such as
- Pfeiffer syndrome
- Jackson-Weiss syndrome
- Crouzon syndrome
Symptoms Of Apert Syndrome
The person affected with Apert syndrome has serious abnormality in shape of head and face. In some cases, mild to moderate deviations are seen and in others the face and head region are severely impaired with development. Not all the individuals, who are affected with apert syndrome, show all the features. There is no cure for the syndrome and surgery can be done for correcting certain abnormalities on face and head and for those, who have problems with hearing, surgery can be done to restore hearing. Symptoms of Apert syndrome include
- Vision problems
- Problem in teeth growing
- Severe ache
- Hearing loss
- Fusion of neck spinal bones
- Heavy sweating
- Oily skin
- Development and growth delays
- No hairs on eyebrows
- Repeated eye infections
People with Apert syndrome have smaller skull in size, average level of intellect or intellectual impairment. The signs of Apert syndrome include
- A face, deep set in the middle
- A cone shaped skull (turribrachycephaly)
- A beaked nose
- Wide and bulge eyes
- An underdeveloped upper jaw
Read : Prader Willi Syndrome
Apert syndrome is a group of condition that abnormally fuses bones of skull, face, hands, and feet in babies. These conditions involve
- Syndromic craniosynostosis – in this condition, babies have multiple joints that fuse together too early. This condition put stress on growing brain and create developmental problems
- Midfacial hypoplasia – in this condition, bones of cheeks, jaws, ears and eyes grow abnormally. This condition causes problems in hearing, vision and breathing. Babies with midfacial hypoplasia are recognized by their bulging eyes and underbite.
- Syndactyly – in this condition, babies have webbed fingers and toes.
Risk factors associated with Apert syndrome include
- Slower learning process
- Hearing loss
- Problems in vision
- Difficulty in breathing
- Undersized stature
Apert syndrome is generally diagnosed at an early stage or at birth. Sometimes, doctors can diagnose the problem while a baby is in the womb by using these techniques.
- Fetoscopy: a flexible scope is placed into the woman’s uterus through her belly by making incision to look at the baby and to take tissue samples (biopsy) or for abnormal blood vessels laser occlusion.
- Ultrasound: this test makes a picture of the baby in the womb by using sound waves.
After birth, the doctor can use genes tests such as Molecular genetic testing or imaging tests such as CT scan, or Magnetic resonance imaging (MRI) to confirm Apert syndrome.
Read @ Fetal Alcohol Syndrome
Apert Syndrome Treatment
Treatment for Apert syndrome is varies from person to person. A doctor will generally decide treatment plan after examining the patient and their family closely. The main treatment for Apert syndrome is surgery to treat abnormal connections between bones. The surgery will take place in three steps
- Release of skill bone fusion
- Midface advancement
- Hypertelorism correction (Correction of wide-set eyes)
Some other surgical options are also available, such as to separate fused fingers or toes, or to reshape facial structures. Apert syndrome requires a lifelong observation and monitoring. Common treatment methods for Apert syndrome include
- Therapies to treat growth and developmental delays
- Dental treatment to correct crowded teeth
- Fixing vision problems
- Lubricating eyes with eye drops
- Continuous positive airways pressure
- Surgical tracheostomy ( placing breathing tube in the neck portion)
- Myringotomy (placing ear tubes)
Natural Home Remedies
There are no natural home remedies known for Apert syndrome as it is a genetic disorder.
Prevention is the only way to get rid of apert syndrome. It is a genetic disorder so it is best to visit any genetic counselor or doctor during the pregnancy, if they have a family history of syndrome to lower the chances of having disorder in the baby. This will help to avoid problems in future pregnancies.
A normal intellectual ability can be achieved by children with Apert syndrome, if they are raised by their own parents. A positive and healthy family environment helps those children to pick things quickly and reduce their emotional and behavioral problems. Family support and guidance is must for treating children with Apert syndrome.
The severity of Apert syndrome is depends on the outer looks of babies and their affected body systems. The condition can be more severe, if it’s affects breathing of the child or if pressure develops inside the skull. Though, both the problems can be treated surgically but it may affect children more severely.
Currently, doctors can treat many of Apert syndrome problems effectively and makes a child very independent. Some children may need extra help to grow, in school or in daily activities.