What Is Apert Syndrome: Causes, Symptoms & More

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August 30, 2022

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Apert Syndrome

What Is Apert Syndrome?Apert syndrome is a rare genetic disorder that causes abnormal development in a baby’s skull. In this disorder, the joints in a baby’s skull close prematurely, causing distortion in head and face. It is a very rare syndrome, and its occurrence rate is one out of 65,000 to 88,000 children. The complications caused by Apert syndrome may even affect life expectancy. However, medical advances are improving the life expectancy of the affected people. Apert Syndrome SymptomsBabies affected with Apert syndrome have distorted shaped head and face. The head of such babies may be:

Longer than normal
Narrower from the front side to the backside
Wider from sideways
Flattened at the backside

Few other symptoms of Apert syndrome are as follows:

Protruding, wide eyes
Mis-aligned teeth
Extra toes and fingers
Fused fingers or toes
Crooked or flat nose
Acne
A sunken middle face
Heavy sweating
Uneven hair in eyebrows
Cleft palate
Producing sounds while breathing

Most of the Apert syndrome symptoms can be seen at the time of the baby’s birth. However, some symptoms start to show up when the baby ages, and his or her organs grow. Who Is At Risk?As we have already mentioned, Apert syndrome is a genetic disorder, which means there are no external factors that can increase the risk of your child having the condition. In fact, around 95 percent of cases of Apert syndrome happen randomly. The only risk factor for this condition is a child’s parents having Apert syndrome. If a person has Apert syndrome, there are 50 percent chances that his or her child will inherit the mutated gene and will get affected. Apert Syndrome CausesThere is a gene in our body named the fibroblast growth factor receptor 2 (FGFR2) gene. It contains the instructions to produce a protein in our body that tells bone cells to form while the baby is in his/her mother’s womb.When some mutation happens in the FGFR2 gene, the signal to produce bone cells gets amplified more than required. This amplification ultimately causes premature joints in the baby’s skull.How Is Apert Syndrome Diagnosed?If a child has a distorted head and face at the time of birth, the doctor suspects it to be Apert syndrome. These symptoms show up only in the case of Apert syndrome or another condition called craniosynostosis syndrome. To confirm the presence of Apert syndrome, doctors often do genetic testing to find the sequence of the gene that caused abnormality in the skull and face of the baby.How Is Apert Syndrome Treated?Scientists are yet to find any Apert syndrome cure. However, there are a few methods and techniques that can make a person’s life more comfortable to live with Apert syndrome. These Apert syndrome treatment methods are:

Releasing of the skull bone fusion: When the baby’s age is between 6 to 8 months, doctors perform surgery to separate the fused skull bones.
Midface advancement: When the baby grows, his/her bones again become fused or misaligned. Doctors again perform surgery to cut the bones and re-align them. This time, the surgery is done when the child is of age between 4 to 12 years.
Correction of eyes: Eye sockets are also brought closer by performing surgery.
Medication: Children suffering from Apert syndrome are also given a number of medicines as they are more prone to catch infections. Eyes drops are prescribed by doctors to prevent children’s eyes from getting dried up.

If your child is suffering from Apert syndrome, Care.Fit can be of great help to you. We have a team of experienced surgeons, orthopaedists, pediatricians who can give treat your child’s condition as much as possible. You can go to your website or app to check more details and also book online appointment. How Can Apert Syndrome be Prevented?Since Apert Syndrome is a genetic disorder, there are no preventive methods of it. One acquires it from birth, hence cannot do anything to keep away from it. However, if a person already has Apert syndrome, he or she should try not to have a biological child. They can try to adopt the child instead. Since, we previously mentioned in the risk factors, the chances of a baby having Apert syndrome increases by 50% if one of the parents is already affected by the syndrome.

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