What Is Achondroplasia? Resources + Tools
What Is Achondroplasia? Resources + Tools

Medical Management in
the Early Years

BIRTH TO 2 YEARS

Medical Management in
the Early Years

BIRTH TO 2 YEARS

Do you think your infant or toddler may have achondroplasia? Have they already been diagnosed? This resource can help you learn more and find support

Getting a diagnosis after birth

Many children with achondroplasia are not diagnosed until after birth

Physical features of achondroplasia usually don’t show up on ultrasounds until the third trimester of pregnancy, after routine ultrasounds have already taken place. Even after birth, achondroplasia may not be obvious at first because children may have a similar length in the newborn stage. However, it tends to become more obvious as children age. Many parents start to suspect that something is off when their child is not developing like other children their age.

Clinical evaluation, X-rays, and genetic testing are the typical ways to receive a diagnosis after the baby is born. If you suspect your child has achondroplasia, talk to their pediatrician about testing.

Some clinical and X-ray characteristics that may be seen after birth include:

  • Clinical characteristics:
    • Short stature
    • Larger than average size head
    • Gap between the third and fourth fingers in the hands
    • Long, near-average length trunk
  • X-ray features:
    • Shortened long bones in the arms and legs
    • Square shape of the pelvis

Genetic testing

Although achondroplasia can be diagnosed based on physical features alone, genetic testing can confirm the diagnosis. This testing can distinguish achondroplasia from other types of skeletal dysplasia, like hypochondroplasia.

Potential Medical Complications

Children with achondroplasia may have specific medical needs, though most will not experience everything listed here. Proactive care and support can make a meaningful difference. Learn more below about how to help support your child’s health.

Stay Prepared with this Medical Checklist

It’s important to make sure your child has the right examinations at the right times.

This printable checklist can help you keep track of your child’s medical visits.

Medical checklist: Birth to 5 years Download PDF

Other medical topics

Oxygen therapy for sleep apnea

Oxygen therapy can help children with central or obstructive sleep apnea breathe better. If your child was recently put on oxygen therapy, you may feel overwhelmed by all the medical equipment that has made its way into your home, but you will become an expert.

Ask your child’s health care provider if they have any tips on getting familiar with the medical equipment used for oxygen therapy.

You can also review the guide we developed on using oxygen equipment. If someone else will be caring for your child, sharing the guide below may help.

Guide to using oxygen therapyDownload PDF

Your child’s oxygen therapy does not need to prevent you from leaving the house and living life. For information about traveling with oxygen therapy, see the recommendations provided by the American Lung Association.

Preparing for surgery

Many children with achondroplasia undergo surgery without any problems, but they are at a greater risk of challenges related to anesthesia, such as:

  • Uncontrolled neck movement leading to squeezing of the spinal cord and breathing problems
  • Receiving the wrong medication dosage
  • Difficulties with inserting an intravenous (IV) line due to limited elbow extension
  • Difficulties with placing a breathing tube if it’s needed

It’s important to ensure that your child receives care from an anesthesiologist experienced in treating patients with achondroplasia. You can also talk to your child’s care team about the Skeletal Dysplasia Management Consortium’s guidelines, which outline best practices to support safe anesthesia care.

Next section: Growth and development

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HEAR FROM THE COMMUNITY

“I would tell myself back then [at time of diagnosis], just take a deep breath and let go of the fear a little bit. Fear is normal. Once you are over that fear, you kind of just dive in. You dive into the information, and you educate yourself and learn everything you can learn about achondroplasia and really try to be your kid’s biggest advocate.”

- Mother of a teenager living with achondroplasia

“My friends would describe me as someone with a big personality, very outgoing, and someone that always is smiling. I’m a people person, and I love making people happy.”

- Young adult living with achondroplasia

“The greatest joy as a parent is seeing my son be energetic and cheerful. I hope that my son will continue to look forward proudly, hold his head high, and live confidently and cheerfully.”

- Mother of a child living with achondroplasia

“We were always outside, we always were being competitive, playing sports, just being kids.”

- Young adult living with achondroplasia

“Really, we are just like everyone else. We may look different, but we like being treated like everyone else.”

- Teenager living with achondroplasia

“I see in my future pretty much what anyone else would: graduating school, graduating college, going on to a job I like, starting a family.”

- Teenager living with achondroplasia

“Having achondroplasia, you are going to come across challenges consistently. The way you are going to deal with them is really going to impact your life. Yes, I have challenges; obstacles get thrown at me all the time, but it’s the way of going about it and realizing there is so much more to life than having achondroplasia.”

- Young adult living with achondroplasia

“We have relied heavily on the community. We are quite appreciative of the community and the resources that are available to help parents, siblings and individuals with achondroplasia. The diversity within this community has been quite enriching on many levels.”

- Father of a teenager living with achondroplasia

“What we have seen is that she has done a great job of adapting herself, getting creative, doing things a little bit differently, but she always finds a way to be successful.”

- Father of a teenager living with achondroplasia

“Typically, with achondroplasia, people focus on height, but there are other important aspects of the condition that impact quality of life.”

- Father of a teenager living with achondroplasia

“Our daughter is a person. She has feelings. Yes, she may be physically different than other children or other people, but I think that it is important to be aware of those differences without necessarily calling attention to them.”

- Father of a teenager living with achondroplasia

“What I want to convey to society is that rare conditions exist, and there are many people in the world who need help. I genuinely wish that the world would be kinder. I hope people have a level of knowledge that allows them to understand the condition when they see a child that is smaller or looks different.”

- Mother of a child living with achondroplasia

“I was four years old when my younger brother was born. I was young and didn’t understand what achondroplasia was. I don’t care if my brother is tall or short. I was simply happy to have a younger brother.”

- Sibling of a person living with achondroplasia

“My joy is seeing my child’s daily progress. There were many things she couldn’t do like other children. She is gradually becoming capable of those things, little by little. I realized that it’s okay to grow slowly.”

- Mother of a child living with achondroplasia