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Updated on April 11, 2025
Achondroplasia is a genetic disorder that affects the normal growth and development of bones. Symptoms include short stature, a larger skull, prominent forehead, and shortened limbs. These symptoms can lead to a variety of complications. Achondroplasia is typically diagnosed shortly after birth, but it can also be detected prenatally.
Treatment focuses on managing symptoms, preventing complications, and helping a person maintain independence and enjoy a good quality of life. A person will work with different healthcare providers with different specialties to achieve these goals.
Good communication with a healthcare team is essential to getting the best care possible.
Preparing for healthcare appointments
Appointments are a time to ask questions, bring up concerns, and update your healthcare provider about anything that has changed. The types of questions, concerns, and updates will vary depending on the healthcare provider you are seeing. For example, discussing surgery with an orthopedic surgeon will be different than discussing home adaptations with an occupational therapist. But you can use the same general approach to prepare for either appointment:
- Start by writing down a list of questions and topics you want to cover at this appointment with this healthcare provider.
- Prioritize the most important topics you want to cover. Ideally, you want to have a main goal for each appointment.
- If you're unsure about something, call ahead and ask. For example, if you need to do any preparation before a test, or if you're unsure of what to wear or bring to an occupational therapy appointment.
- Find out if the provider needs any information from you, such as medical records, test results, or other documents.
Be prepared to update your healthcare provider
Just as you rely on your healthcare provider for information, your healthcare provider relies on you for updates. Be prepared to update your healthcare provider about things like symptoms, how treatment is going, and how you or your child are feeling. Some examples of what to watch for and what to discuss:
- Any changes in mobility, posture, or ability
- Any changes in breathing, such as shortness of breath
- Any tasks that are more difficult or challenging, either physically or mentally
- Changes in sleep patterns, including sleep apnea symptoms (snoring, pauses in breathing during sleep, daytime sleepiness)
- Changes in hearing ability, recent or recurring ear infections
- Headaches
- Changes in weight
- GI distress, including acid reflux
- Changes in bowel or bladder function
- Pain and/or numbness in the legs and/or back
- In children and young people, changes in height, weight, and/or head circumference
- Moods, mental health, and social challenges
It’s important to remember that achondroplasia is a different experience for everyone. Different people experience different symptoms and challenges at different points in their lives. As a general rule, if there is a change you’ve noticed in how you or your child feels or functions, bring it up with a healthcare provider.
It’s also important to keep a list of all medications that you or your child take, and make sure all of your healthcare providers have an updated list. This list should include prescription medications, over-the-counter medications, and any vitamins or supplements.
Be prepared to discuss treatment
You’ll want to discuss your current treatment and your next steps in treatment. Again, this will be a different type of conversation with different members of a healthcare team, since different healthcare providers focus on different aspects of treatment.
The different parts of a treatment plan can include:
- Medical therapies. These can include human growth hormone as well as medications called C-type natriuretic peptides, which promote bone growth in children that have open growth plates (bones that are still growing in length). These therapies can only be initiated during certain ages in childhood.
- Surgical therapy. Surgery can be needed to treat orthopedic problems. This can include surgery to address curvature and/or compression in the spine, surgery to straighten or lengthen the legs, and surgery to relieve pressure in the skull and brain.
- Treatment for complications. This can include complications that affect speech, hearing, breathing, and dental issues.
- Social and psychological support. Briefly mentioned above, mental health and social support should be a focus of treatment for people with achondroplasia as well as caregivers.
- Routine healthcare. A person with achondroplasia will also need the same routine healthcare that any person needs, including checkups, immunizations, and treatment for minor illnesses.
Questions to ask yourself and your provider about treatment:
- What is the goal of this part of a treatment plan?
- What kind of result can you expect?
- How do you feel about this part of your treatment plan?
- What do you feel is helping?
- Is there anything you feel this part of your treatment plan is not addressing?
- Ask if your healthcare provider recommends any changes.
- If you are discussing treatment options such as therapies that promote growth or surgery, it’s important to discuss both the potential risks and potential benefits.
After your appointment
Have clear instructions about what you need to do after your appointment, including making follow-up appointments, filling prescriptions, or information that your healthcare provider needs.
