What are the Signs Of Achondroplasia In Babies?

Around 1 in every 10,000 to 30,000 children suffer from Achondroplasia, a form of dwarfism that causes the babies to have shorter limbs as compared to the rest of the body. Most babies that are diagnosed with Achondroplasia usually have a larger head compared to the rest of their bodies.

The condition is genetic and is generally passed down from parents with average stature. It is not a standard or proportionate dwarfism. Instead, it is a type of bone growth disorder, that leads to a smaller or shorter stature but with a normal-sized abdominal region or torso.

This article will delve into the signs of Achondroplasia, its causes, diagnosis, and treatment options.

What is Achondroplasia?

When it comes to exploring about Achondroplasia meaning, remember that it is a form of disproportionate dwarfism that’s caused by bone growth disorder.  It primarily affects the limbs, making them a lot shorter compared to the remainder of the body’s proportions.

The onset of Achondroplasia typically happens when the cartilage tissue doesn’t develop into strong bones in the fetal development stages. This contributes to shorter limbs, especially legs in the baby.

How does Achondroplasia Affect Baby’s Body?

Many individuals have the misconception that the impacts of Achondroplasia are only limited to the change in the appearance of the baby. However, that’s just the tip of the complication.

Babies born with Achondroplasia experience a lot of other complications like:

• Weak muscle tone or hypotonia
• Delayed motor skill development
• Risks of spinal cord compression
• Upper respiratory blockages during infancy
• Breathing problems
• Recurring ear infections
• Risks of obesity

Given that the impacts are often quite severe, most of the diagnosed babies are kept under careful doctor’s supervision to prevent any severity down the road.

Since Achondroplasia is a deformity of the bone structure, the condition doesn’t require any treatment or any cure for the actual condition. However, most doctors monitor the baby for accessory symptoms and complications as mentioned above.

What causes Achondroplasia?

Achondroplasia is a genetic disorder, which is caused by changes or mutations to the FGFR3 gene. This specific gene is responsible for ensuring smoother communication for the protein production in the body that’s responsible for the development of bone and brain tissue.

Studies show that the over or hyperactivity of the FGFR3 protein leaves to the inhibition of bone growth and skeletal development in the baby.

Another one of achondroplasia causes is due to an autosomal dominant trait inheritance, wherein the baby acquires the mutated gene from one of their parents.

In very rare cases wherein both the parents have Achondroplasia, there is a 25% chance that the baby could have a severe gene mutation that causes homozygous achondroplasia, which is fatal and the babies are usually stillborn or die a few months after birth.

Despite the prevalence of the possibility of genetic predisposition, reports from the National Human Genome Research Institute (NHGRI) report that 80% of the reported cases are caused by spontaneous mutations in the FGFR3 gene and not due to inheritance.

Since there are 20% chances of a baby acquiring the condition due to genetic inheritance, it’s crucial that parents with a family history of achondroplasia get genetic testing done prior to starting a family.

What are the Most Common Signs and Symptoms of Achondroplasia?

Achondroplasia symptoms don’t normally impact the intellect of the baby. They are typically born with normal intelligence levels but the physical symptoms of the condition are quite stark.

There are three stages to the development of the symptoms, preferably at birth, during infancy, and later when they are toddlers, teens, or during their adulthood.

Here’s a quick breakdown of all the stages and the symptoms and complications associated with the condition.

If your child experiences any of the symptoms, your pediatrician will likely diagnose them with achondroplasia during the routine medical examinations after birth. Once diagnosed, the baby has to remain under close monitoring to reduce the impacts of any of the accessory symptoms that pop up as a consequence of the disorder.

How is Achondroplasia Diagnosed?

The Achondroplasia diagnosis is typically rendered in two forms. Your OBGYN might diagnose you during your pregnancy or after the birth of the baby.

Let us discuss them in detail:

During pregnancy

Ultrasounds during pregnancy can provide an initial picture of whether or not the baby might have achondroplasia. Signs like hydrocephalus are a leading trigger that your ultrasound tech will closely monitor.

In case the doctor suspects a risk of achondroplasia, further genetic testing for the FGFR3 gene will be prescribed by taking a sample of the amniotic fluid.

For a later diagnosis after the child’s birth, your doctor will assess the situation based on the baby’s physical features. For a more comprehensive understanding, your doctor might prescribe a few X-rays to measure the length of the bones. Genetic testing might be ordered too.

Depending on the reports, the doctors will suggest a further line of treatment to manage the symptoms and complications that generally follow through.

How is Achondroplasia Treated?

There is no treatment or cure for Achondroplasia. Most children that are born with the condition undergo assistive treatment for the symptoms and complications they experience. These can include physical therapy, antibiotics for recurring infections, and in some cases surgery for correcting spinal stenosis.

Some children with achondroplasia might undergo growth hormone therapy to augment their growth but the long-term effects aren’t that promising.

Typically, there are a few accessory assistive achondroplasia treatment that are often suggested for children with achondroplasia. They include:

• Advocating for the child’s physical and mental well-being as they get older since they might feel “out of the box” among their abled peers.
• Encouraging self-esteem and independence in the baby instead of treating them with kid’s gloves or giving them a sheltered life.
• Getting regular monitoring of the baby’s spine health since achondroplasia triggers the onset of spinal curvature disorders, spinal stenosis, etc.
• Ensuring optimal nutrition and balanced dietary habits for the child.
• Since achondroplasia increases the risks of obesity, encouraging an active lifestyle for the baby is equally important.

As a parent or caregiver, being mindful of a child’s condition and symptoms is crucial. If you feel something isn’t right, consult a pediatrician for a better understanding.

Also Read : https://pregajunction.com/blog/vision-problems-in-babies-symptoms-causes-and-more/

Conclusion

Achondroplasia is a very less talked about the condition in the community. The lack of awareness is often one of the leading causes of disparity among diagnosed individuals. It’s necessary that we as a society generalize discussions surrounding the condition to raise awareness and eliminate the stigma surrounding it.

Given that Achondroplasia has a prevalence of genetic inheritance from the parents, it’s important to get comprehensive genetic testing before trying to conceive a baby. Even during pregnancy, prioritize close monitoring of the risks for better management of the disorder at a later stage in life.

FAQs

When does Achondroplasia appear?

The onset of achondroplasia happens during the early stages of fetal development when the cartilage fails to transform into stronger bones in the body of the child.

How tall will a child with Achondroplasia grow?

The average height for adults born with achondroplasia is around 4’4” for the males and 4’1” in females.

Is Achondroplasia fatal?

The standard form of achondroplasia brings a lot of health complications but isn’t fatal. However, homozygous achondroplasia, which has a 25% prevalence is fatal and leads to stillbirth or death of the newborn after a few months.