Achondro­plasia

Achondroplasia is a type of skeletal dysplasia, a group of conditions that affect how bones and tissues grow. In this case, the upper bones in your child’s arms and legs don’t grow as long as they should. It’s caused by a genetic mutation (change). It usually isn’t inherited (passed down through genes from parents) and can happen to anyone.

Sometimes, we can diagnose achondroplasia before birth. Your provider may see signs of it during an ultrasound later in pregnancy and confirm the diagnosis with prenatal genetic testing. You may have several follow-up ultrasounds during your pregnancy to keep an eye on things. But, in most cases, we don’t notice signs of achondroplasia until after birth, because it usually can’t be detected at your 18-20 week anatomy ultrasound.

Signs of achondroplasia can include:

• Delayed growth.
• Delayed development (not reaching milestones for sitting, crawling and walking).
• Weak muscle tone (hypotonia).
• Flat nose.
• Large head (macrocephaly).
• Larger than typical separation between the third and fourth fingers.
• Prominent forehead.
• Short hands and feet.

Achondroplasia can cause long-term effects, like:

• Breathing problems (apnea).
• Recurrent ear infections.
• Obesity.
• Obstructive sleep apnea.
• Excess fluid in the brain (hydrocephalus).
• Narrowing of the space for the lower brain stem and spinal cord in the neck.
• Back and leg pain.
• Curved spine.
• Bowed legs.

What to expect at your first visit

When you and your child come to see us, we’ll take time to get to know each other.

Your child’s provider will ask you to share your child’s story. They’ll ask about what symptoms you’ve noticed, when you first noticed them and how they’ve been affecting your child’s life.

Next, your child will have a physical exam to check their overall health and look for noticeable signs of achondroplasia. Your provider may also order several tests to help confirm an achondroplasia diagnosis. Our child life specialists can help you and your child understand what to expect. Your child may have:

• X-rays to help us to see if the shape and position of your child’s bones are typical.
• Genetic testing to look for a mutation in the FGFR3 gene, the known cause of achondroplasia.
• MRI or CT scan to check for muscle and spinal cord problems that could cause weakness.

Meet our achondroplasia team

The most personalized care for achondroplasia comes from a team of providers from different specialties, selected based on your child’s unique diagnosis, needs and goals. This team works together to create a care plan to manage their achondroplasia and any complications. Your child may see:

• Pediatricians.
• Pediatric orthopaedists.
• Pediatric endocrinologists.
• Pediatric pulmonologists.
• Pediatric neurologists.
• Pediatric otolaryngologists.
• Geneticists and genetic counselors.
• Child psychologists.
• Child life specialists.
• Pediatric physical therapists.
• Pediatric occupational therapists.

Because achondroplasia affects each child differently, your child’s treatment will be unique to them. We focus on keeping your child as comfortable and active as possible. Depending on your child’s needs, their treatment may include:

Tracking growth and development

Your child’s care team will keep a close eye on how your child is growing and developing. They’ll keep track of your child’s weight, height and head circumference (measurement around their skull). They’ll also work with your family to help your child manage their weight and prevent obesity with healthy eating habits.

Surgery

Your child may need surgery to treat complicated symptoms. Our expert pediatric surgeons walk you through what to expect, supporting you and your child before, during and after surgery. Procedures your child may need include:

• Shunt (hollow tube) to treat hydrocephalus.
• Spinal fusion or spinal decompression therapy.
• Ear tubes to prevent ear infections.
• Tonsillectomy with or without adenoidectomy.

Sleep support

Your child may develop breathing problems that could make it hard to sleep. Our sleep medicine specialists can fit your child for a CPAP machine to help them breathe easily through the night.

Medications

Your child may need antibiotics to treat ear infections. Or they may take growth hormones. Research is underway to study medications that might help increase height by a few inches.

Physical and occupational therapy

Becoming independent is an important part of your child’s development. Our pediatric physical and occupational therapists can help your young child gain the skills and strength they need to sit up, crawl and walk. As they get older, we help them grow confident about doing more things on their own, like getting dressed and using the toilet. We work with you so you can support your child’s independence at home and at school.

Counseling and support groups

We can connect you with local support groups and community resources that may help you and your child feel more confident while managing their achondroplasia. We can also provide counseling for your family, if needed.

Ongoing care

Your child will need lifelong medical care to grow and develop. We keep a close eye on your child during their first few years of life and see them routinely throughout childhood. If complications arise, we quickly respond to them to keep your child living comfortably. And as they move into adolescence, we’ll help your child switch over easily from their pediatric providers to adult care.  

Taking the Next Step

When your child has achondroplasia, they’ll need a strong team behind them to help them live a healthy, happy life with confidence. Together with you and your family, your child’s Cleveland Clinic Children's care team offers the personalized care and compassionate support they need and deserve every step of the way.