Apert Syndrome: 6 Top Things to Know About This Rare Disease
Bajaj Finserv Health
July 6th, 20225 mins read
A raregenetic 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.
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 .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 . 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 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.
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 TherapyWith 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!