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Apert Syndrome: 6 Top Things to Know About This Rare Disease

B
Bajaj Finserv Health
July 6th, 2022
5 mins read

Synopsis

A rare genetic condition, Apert syndrome is merely visible in one out of 65,000-68,000 children. Read on to find out about Apert syndrome symptoms, Apert syndrome treatment methods, and more.

Key Takeaways

  • Apert syndrome is a rare condition also known as acrocephalosyndactyly
  • Apert syndrome causes involve a mutation of the FGFR2 gene
  • Apert syndrome symptoms include craniosynostosis, syndactyly, and more
Apert syndrome is an uncommon genetic condition that affects the formation of skulls in babies. Also known as acrocephalosyndactyly, this syndrome leads to a distorted shape of the head, face, and other organs like fingers and toes. Usually, the fibrous joints inside the skull of a newborn remain open for some time post-birth to help the brain grow. In case the joints close too early and the brain keeps expanding, it leads to distortion that causes Apert syndrome. Children with Apert syndrome may have other birth defects too. As of now, Apert syndrome has no cure, but you can manage it to some extent with surgical help. One out of every 65,000-68,000 children has Apert syndrome [1]. Read on to learn about the Apert syndrome causes, as well as the features and treatment procedures you can try.

Apert syndrome causes 

Apert syndrome is caused due to the mutation of the fibroblast growth factor receptor-2 gene, also known as FGFR2. If this mutation occurs, it can lead to a rapid increase in the number of genetic signals that promote the growth of your bones. As a result, bones develop abnormally and get fused with one another in a newborn’s skull. More than 98% of Apert syndrome cases develop in this way [2]. In the rarest of rare cases of Apert syndrome, a baby inherits it from the parents. Additional Read: Taking care of a newborn to a COVID -19 positive mother Apert Syndrome

Apert syndrome symptoms 

Apert syndrome features may primarily become visible in a newborn’s head. It may seem taller than usual and pointed at the top. The forehead may look pushed out while the back of the head becomes flat. Now take a look at what the different conditions related to Apert syndrome are like. 
  • Craniosynostosis: Premature closure of one or more fibrous joints of the skull 
  • Syndactyly: Fingers and toes getting fused together 
  • Midface hypoplasia: The abnormal development of the midface that involves the eyes, nose, mouth, and jaws; this can lead to breathing disorders like sleep apnea and other problems
The usual Apert syndrome symptoms include a flat and beaked nose, crossed and bulging eyes, an underbite, fused or extra fingers and toes, fused bones in the hip, crowded and uneven teeth, narrow palate with or without a cleft, severe acne, sweating, noisy breathing, and more.

Diagnosis of Apert syndrome 

While babies are still in their mother’s wombs, the following procedures can sometimes help doctors to diagnose Apert syndrome.  
  • Ultrasound: Application of sound waves to create an image of the baby inside the womb 
  • Fetoscopy: Placement of a flexible scope into the mother’s uterus in order to examine the baby and collect samples of tissue and blood 
After the baby is born, doctors can confirm Apert syndrome with the help of the following tests.  
  • Magnetic resonance imaging: Also known as MRI, this test uses the power of radio waves and magnets to produce pictures from inside the newborn’s body. 
  • Computed tomographic scan: Also regarded as a CT scan, this test is a combination of multiple X-rays from various angles of the body to produce a detailed image of the inside.
birth defects in newborn

Apert syndrome treatment options 

Usually, after birth, there is a team of specialists that looks after patients with Apert syndrome. They may include surgeons, pediatricians, orthopedists, cardiologists, audiologists, pulmonologists, ENTs, and more. It is important to note that Apert syndrome cannot be completely cured, but you can manage it to some extent by surgeries and by alleviating the side effects. Within the first few months of birth, a baby suffering from Apert syndrome may need to undergo the following surgeries: 
  • Surgery to reshape the skull, also known as cranioplasty 
  • Surgeries to separate joined fingers and toes 
  • Surgery to remove extra teeth 
  • Rhinoplasty or plastic surgery of the nose 
  • Genioplasty or plastic surgery of the skin 
  • Surgery to reconstruct the jaws, also known as an osteotomy
To keep the side-effects of Apert syndrome at bay, make sure you do the following for your children: 
  • Give them hearing aids in case they are hard of hearing 
  • Get their eyes checked in case of any issue with vision 
  • Take them to pulmonologists and ENTs to initiate specific treatment for obstruction in airways 
  • Pay special attention to your baby’s mouth and teeth 
  • Schedule timely appointments with therapists for physical therapy, speech therapy, and occupational therapy

When to reach out to a doctor post-treatment 

After your baby is treated for Apert syndrome, make sure to reach out to a doctor in the following situations: 
  • Being unable to hear simple commands 
  • Getting infections inside the ears quite frequently 
  • Not reaching the defined growth milestones 
  • Having difficulty in breathing 
  • Inflammation and irritability at the surgery site

How to reduce the risk of bearing a child with Apert syndrome 

There is actually no way to prevent Apert syndrome before conceiving. However, you can go for genetic tests to find out if you are carrying any genetic conditions and are at the risk of transferring them to your baby. Additional Read: World Autistic Pride Day: 8 Approaches to Autism Treatment Therapy With all these details regarding Apert syndrome, you can wisely decide what to do in such situations. For the safety of your baby, make sure to do all the recommended tests before planning to conceive. For the best advice on this and other health conditions, you can opt for online consultation with the best doctors around you on Bajaj Finserv Health. Choose from a host of doctors from different specialties and get your queries resolved in no time. You can also ask the doctors about other baby-related conditions like colic in babies or newborn cough to take two steps ahead in your preparation for parenthood. Go for online or offline consultations as per your flexibility and get the facility of consulting in all major Indian languages. With all these facilities, you can get comprehensive healthcare without delay!
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