Achondroplasia is a genetic condition that causes dwarfism (short stature). Children with achondroplasia face some extra health challenges.
As a parent, it’s important to understand the possible issues that might come up. That way, you’ll know what to expect and how to best support your child.
What Health Issues Might Come Up?
With achondroplasia, tissue in a child’s body called cartilage doesn’t turn into bone the way it should. This leads to shorter bones, which can trigger different health problems.
Spinal stenosis
Spinal stenosis happens when the space of your spinal canal gets too small. Kids and adults with achondroplasia are more likely to have spinal stenosis because the bones in their spine grow differently.
Some common symptoms of spinal stenosis are:
- Pain
- Numbness
- Weakness in your legs
- Difficulty walking
Extra fluid around the brain
Rarely, achondroplasia can cause extra fluid to build up around your child’s brain. This is known as hydrocephalus. It happens because the space where fluid normally drains out of the brain is too small.
If your child has hydrocephalus, their head may quickly grow large or become swollen. Other possible symptoms include:
- Headaches
- Irritability
- Low energy
- Throwing up
Sleep apnea
Kids with achondroplasia are more likely to have sleep apnea, which causes pauses in breathing during sleep. This can happen because changes in their face and skull bones make their breathing airways smaller and tighter.
Some common symptoms of sleep apnea are:
- Loud snoring
- Stopped breathing during sleep
- Choking or gasping during sleep
- Sleepiness or irritability during the day
Ear infections
Children with achondroplasia often get ear infections. That’s because special tubes that drain fluid from their middle ear (eustachian tubes) are smaller or shaped differently. As a result, fluid can’t drain properly and may become infected.
If your child has an ear infection, they might have these signs:
- Ear pain
- Trouble sleeping
- Problems hearing out of the affected ear
- Loss of appetite
- Pressure or a full feeling in the ear
- Yellow, brown, or white drainage from the ear
- Fever
- Crying, fussiness, mouth breathing, or tugging on the ears (in babies)
Posture issues
Because of how their bones grow, posture problems are another concern for kids with achondroplasia. Here are some common issues:
Kyphosis. This condition causes an unusually rounded upper back. It’s common in babies with achondroplasia because they have loose joints and poor muscle tone.
Lordosis. This is an inward curve in the lower back. It causes your belly to stick out and your back to sway.
Bowlegs. Legs curve outward and can affect how you stand or walk. Bowlegs can be painful.
Shorter limbs. Shorter limbs can affect how kids with achondroplasia balance when they walk or stand. Some also have a hard time straightening their elbows.
Motor development delays
Posture problems and weak muscle tone may cause children with achondroplasia to have motor delays. Babies may sit, crawl, or walk later. Or your child might have trouble with balance and coordination.
Speech and hearing issues
Kids with achondroplasia may not hear or speak clearly for a few reasons:
- Their smaller ear tubes trap fluid, which, over time, can lead to hearing loss.
- Their narrow breathing airways may make it more difficult to speak clearly.
- They have skull and jaw differences that can change how they pronounce words.
Obesity
Children with achondroplasia are more likely to be overweight or have obesity. The extra weight can make other problems, like sleep apnea or back issues, worse.
Crowded or crooked teeth
Achondroplasia can affect how a child’s face and jawbones develop. Kids with the condition often have crooked or crowded teeth. Typically, teeth don’t have enough room to fit in their mouths properly.
What Kind of Treatments Could Your Child Need?
Your treatment options will depend on the specific issues your child faces.
Growth hormone
Growth hormone is a medicine that helps bones and muscles grow. Some research shows it can help kids with achondroplasia grow taller over time. But these effects are relatively modest.
What’s more, some studies suggest growth hormone may make the disproportion of your child’s body more noticeable. For example, it can cause faster spine growth than leg growth.
Other possible side effects of growth hormone are:
- Headaches
- Muscle or joint pain
- Swelling
- Worsened curve in the spine
- Thyroid issues
Vosoritide (Voxzogo)
Voxzogo is a newer medicine approved to help kids with achondroplasia grow taller. It blocks a signal that normally slows bone growth. In studies, kids who took Voxzogo grew 1-2 centimeters more per year than those who didn’t take it.
Common side effects are injection reactions and temporary low blood pressure in babies.
TransCon CNP (navepegritide)
The FDA recently accepted TransCon CNP for priority review for the treatment of achondroplasia in children. In clinical trials, the new medicine has been shown to improve lower limb alignment, muscle strength, spinal canal dimensions, and growth when compared with a placebo.
Surgery
Your child’s doctor might suggest surgery to correct problems with their spine or other parts of their body. Some common procedures include:
Spinal fusion. Spinal fusion is a surgery that permanently connects two or more tiny bones (vertebrae) in your child’s spine so they act like one bone. It may be used to treat spinal deformities like kyphosis or spinal stenosis.
Decompression surgery. Because of the way bones grow in achondroplasia, the space inside your child’s spine can be too narrow. Decompression surgery makes more room for the spinal cord and nerves. It’s often done at the same time as a spinal fusion.
Guided growth plate surgery. This procedure helps straighten bones as kids grow. Surgeons attach a titanium plate to one side of your child’s growth plate. This temporarily slows growth on that side, so the shorter side can catch up.
Osteotomy. With an osteotomy, surgeons reset misshapen bones so they grow the right way. They cut the bone and realign it with screws, pins, plates, or an external frame. The procedure is often used to correct severe bowing.
Shunt. If your child has hydrocephalus, doctors may place a small tube called a shunt in their brain. The shunt helps drain extra fluid, so pressure in the brain goes down.
Tonsil and adenoid surgery. Doctors might suggest surgery to remove your child’s tonsils and adenoids. This procedure may help open up airways and improve symptoms of sleep apnea. It may also lessen how often kids get ear infections.
Ear tube surgery. Some kids with achondroplasia who have frequent ear infections may need ear tube surgery. With this procedure, doctors place a tiny tube in your eardrum that allows fluid to drain and lets air into the middle ear.
Other procedures. Sometimes, doctors recommend other procedures to help lengthen children’s arms and legs.
CPAP
Kids with sleep apnea may benefit from a continuous positive airway pressure (CPAP) machine. It keeps your child’s airways open while they sleep, so they can receive enough oxygen all night.
Antibiotics
Ear infections should be treated right away. This can help lower your child’s risk for hearing loss. Doctors might prescribe antibiotics to treat ear infections.
Physical therapy
Physical therapy can help kids with achondroplasia improve:
- Posture problems
- Strength and endurance
- Balance
- Flexibility
Therapists use play, exercise, and other activities to keep your child engaged.
Dental work
If your child’s teeth are too crowded or crooked, they may need to see a dentist to fix the problem. Sometimes, tooth removal is needed to make more space for other teeth to grow.
How Should You Make Treatment Decisions?
Your doctor and healthcare team can help you make treatment decisions for your child. Some things you may want to consider when you choose a treatment are:
Risks and side effects. Every treatment comes with potential risks. Find out what they are.
Impact on quality of life. Consider how the treatment will affect your child’s daily life and well-being.
Timing. Some treatments, like growth factor and Voxzogo, need to be started before a child’s growth plates close.
Results. Research the treatment’s success rates.
Your child’s preferences. If possible, consider your child’s goals when you choose a treatment.
Long-term outlook. Some procedures, like spinal fusion, are permanent and not reversible.
Finances. Make sure you can afford the treatment.
What Resources Can Help?
Some organizations that provide support and useful information about treatment decisions are:
- MyAchonJourney
- The Chandler Project
- Growing Stronger
- Little People of America
- Beyond Achondroplasia
Questions to Ask Your Doctor
If your child has achondroplasia, you probably have a lot of questions about treatment options. Here are some things to ask your doctor:
- Are there any therapies to improve my child’s height?
- How much height gain can we expect?
- What treatments do you recommend and why?
- What are the risks or side effects?
- Does my insurance cover the cost?
- What will happen if my child doesn’t have this treatment?
- Are there other health specialists that my child should see regularly?
- Would a clinical trial benefit my child?
Show Sources
Photo Credit: The Image Bank/Getty Images
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Johns Hopkins Medicine: “Achondroplasia.”
MedlinePlus: “Achondroplasia.”
American Academy of Orthopedic Surgeons (AAOS): “Achondroplasia.”
Cureus: “Sleep-Disordered Breathing in an Infant With Achondroplasia and Foramen Magnum Stenosis,” “Vosoritide (Voxzogo) for Achondroplasia: A Review of Clinical and Real-World Evidence.”
Orphanet Journal of Rare Diseases: “Obstructive sleep apnea in Norwegian adults with achondroplasia: a population-based study.”
Nemours Children’s Health: “About Achondroplasia.”
St. Louis Children’s Hospital: “Achondroplasia.”
European Journal of Pediatrics: “Final adult height in long-term growth hormone-treated achondroplasia patients.”
Pediatric Research: “Treatment of Achondroplasia with Growth Hormone: Six Years of Experience.”
Endocrine Society: “Growth Hormone Deficiency.”
Mayo Clinic: “Spinal fusion,” “Ear tubes.”
NYU Langone Health: “Surgery for Achondroplasia in Children,” “Rehabilitation for Achondroplasia in Children.”
Penn Medicine: “Tonsillectomy/Adenoidectomy Overview.”
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University of Minnesota: “Decide on Treatment.”
FDA Prescribing Information: “Voxzogo.”
Sharecare: “6 Questions to Ask a Child’s Achondroplasia Care Team.”
