Achondroplasia in Children
What is achondroplasia in a child?
Achondroplasia is the most common type of rare genetic bone disorder. The strong,
flexible tissue called cartilage is not made into bone as normal. This causes a series
of signs, such as short arms and legs and a large head. This condition used to be
called dwarfism. A boy with the condition will reach an average adult height of about
4 feet, 4 inches (52 inches). A girl with the condition will reach an average adult
height of about 4 feet, 1 inch (49 inches). People with achondroplasia have normal
intelligence and normal lifespan.
What causes achondroplasia in a child?
Achondroplasia is a genetic disease. It is an autosomal dominant disease. This means
that only one abnormal gene inherited from one parent leads to the condition. Most
cases of achondroplasia are from a new gene mutation in families. This means the parents
are average height and do not have the abnormal gene.
Which children are at risk for achondroplasia?
Having a parent with achondroplasia increases the risk of being born with the condition.
But most babies born with the condition do not have a family history of it.
What are the signs of achondroplasia in a child?
Signs can occur a bit differently in each child. They can include:
Large head size with large forehead
Flattened bridge of nose
Crowded or crooked teeth
Short arms, legs, and fingers, but normal-sized torso
Upper arms and thighs more shortened
Bowed lower legs
Curved lower spine (lordosis or swayback), which may lead to hunchback (kyphosis)
A small hump near the shoulders that usually goes away after a child begins walking
Flat feet that are short and broad
Extra space between the middle and ring fingers (trident hand)
Poor muscle tone and loose joints
Short spells of slow or stopped breathing (apnea)
Middle ear infections that occur often, which may lead to hearing loss
Delayed development milestones, such as walking occurring at 18 to 24 months instead
of at 12 months
Small canals in the spinal bones that can cause breathing problems
The signs of achondroplasia can be like other health conditions. Make sure your child
sees their healthcare provider for a diagnosis.
How is achondroplasia diagnosed in a child?
Achondroplasia can be diagnosed before birth by fetal ultrasound. This test uses sound
waves and a computer to create images of the baby growing in the womb. DNA testing
can also be done before birth to confirm fetal ultrasound results.
The condition can also be diagnosed after birth with a physical exam. You can track
your child's growth for any signs of slowing. In particular, note if it's different
from how your other children grew.
How is achondroplasia treated in a child?
There is no treatment for changing the condition. But different kinds of treatment
can be done to help relieve problems caused by the condition.
Surgery may be done to:
Other treatments may include:
Fixing dental problems. A child may need to be treated by an orthodontist. This is a dentist with special
training in fixing the alignment of teeth.
Treating ear infections right away. This is to avoid the risk of hearing loss.
Follow-up appointments to look for bone problems. The spine needs to be checked to prevent breathing problems. Breathing problems can
happen if the upper end of the spine is compressed. Other bones need to be checked
to prevent leg pain or loss of function.
Treatment with growth hormone does not largely affect the height of a person with
achondroplasia. Studies are being done to see if other growth factors such as hormone
medicine or treatment may help. Treatment focuses on dealing with the problems caused
by the condition.
What are possible complications of achondroplasia in a child?
Health problems are common in children and adults with achondroplasia. Not all of
the below problems occur in every child with achondroplasia. Each problem can be addressed
by your child's healthcare team. Problems may include:
No breathing for short periods of time (apnea). Babies often have episodes of apnea. Surgery to remove the tonsils and adenoids often
corrects this problem.
Regular ear infections. These may need to be treated with ear tubes.
Buildup of fluid in the brain (hydrocephalus). This may need to be drained or managed with the insertion of a tube called a shunt.
Posture problems. Babies may have a small hump in the upper back (kyphosis). This often goes away when
a child begins to walk. But walking often leads to the lower back curving inward (lordosis).
Physical therapy may help with this problem.
Dental problems. Crowded or crooked teeth may need to be treated by an orthodontist.
Obesity. Your child’s healthcare provider can advise ways to help keep your child’s weight
A child with the condition may also have small vertebral canals. These are the spaces
inside the spinal bones. This may lead to spinal cord compression as a child gets
older. In rare cases, a child with achondroplasia may die suddenly in infancy or early
childhood during sleep because of compression of the upper end of the spinal cord.
Compression in this area causes problems with breathing. Around 12 months of age,
your child's healthcare provider may recommend a CT scan or MRI scan to check the
diameter of the spinal canal to help prevent this complication.
Can achondroplasia be prevented in a child?
Most cases occur in families with no history of the condition and can't be prevented.
If a parent or parents have achondroplasia, a genetic counselor can give you information
about the possibility of passing the condition on to your child.
How can I help my child live with achondroplasia?
It is important to keep all well-child appointments so your child's health can be
regularly monitored. Keep an ongoing list of questions and bring them with you to
your child's appointments. Living with achondroplasia means adapting to being short
in a world built mostly for taller people. It also means watching for possible complications
and managing problems that occur. A healthcare team that has worked with the condition
can help you manage your child's physical and emotional needs. Groups such as Little People of America and Magic Foundation can give support and information to your family and your child.
Your child will also have special protection in the public education system. The Americans with Disabilities Act and Section 504 of the Rehabilitation Act of 1973 provide these protections. Review the online resources and check with your state
or local school board about when and how to ask for classroom and other school changes
your child may need. You will become your child's most important supporter in the
When should I call my child's healthcare provider?
If your child has achondroplasia, call the healthcare provider if your child has:
Key points about achondroplasia in a child
Achondroplasia is a type of rare genetic bone disorder. The strong, flexible tissue
called cartilage is not made into bone as normal.
People with achondroplasia have normal intelligence and normal lifespan.
Achondroplasia is a genetic disease. Most cases of achondroplasia are from a new gene
mutation in families. This means the parents are average height and do not have the
Signs can include short arms and legs, large head, and flattened bridge of nose.
Achondroplasia can be diagnosed before birth by fetal ultrasound.
Different kinds of treatment can be done to help relieve problems caused by the condition.
Living with achondroplasia means watching for possible complications and managing
problems that occur.
Federal laws protect your child's right to a free and appropriate public education.
Groups such as Little People of America and the Magic Foundation can give support and information to your family and your child.
Tips to help you get the most from a visit to your child’s healthcare provider:
Know the reason for the visit and what you want to happen.
Before your visit, write down questions you want answered.
At the visit, write down the name of a new diagnosis and any new medicines, treatments,
or tests. Also write down any new instructions your provider gives you for your child.
Know why a new medicine or treatment is prescribed and how it will help your child.
Also know what the side effects are.
Ask if your child’s condition can be treated in other ways.
Know why a test or procedure is recommended and what the results could mean.
Know what to expect if your child does not take the medicine or have the test or procedure.
If your child has a follow-up appointment, write down the date, time, and purpose
for that visit.
Know how you can contact your child’s provider after office hours. This is important
if your child becomes ill and you have questions or need advice.