What is achondroplasia in a child?

Achondroplasia is a genetic disorder in which the growth of bones is affected. It happens due to a genetic mutation (or change) in both the hands and feet. Regardless of the fact that Achondroplasia can cause an array of health problems in those who are diagnosed with it, there are several things about the condition that many people do not know about unless or until it becomes a problem for them personally through birth or adoption. People with achondroplasia have shorter than average adult heights. Estimates vary but if you have this condition, your estimated adult height could be anywhere from 4 feet to 4 feet, 10 inches (untrue). A boy with achondroplasia will reach an average adult height of about 4 feet, 0 inches (52 inches), and a girl will reach an average adult height of about 3 feet, 10 inches (49 inches). Your intelligence and lifespan are normal.

What causes achondroplasia in a child?

A form of dwarfism called Achondroplasia is caused by a gene mutation that affects the bone receptor, which takes cartilage and converts it to the bone during fetal development. Most cases of achondroplasia are caused by a gene mutation, which means that the parents aren’t affected. If both parents carry the abnormal gene, then there is a 25% chance their child will be affected.

Which children are at risk for achondroplasia?

Children who are born with achondroplasia have 1 in 20 chance of having the gene that causes the condition if one parent is affected. However, if both parents carry this gene then the chances of passing it on to their child is 1 in 4.

What are the symptoms of achondroplasia in a child?

Signs and symptoms vary greatly across the spectrum of disorders.

  • Short hands and feet
  • Bones are shortened (thigh, upper arm)
  • Head larger than normal
  • Maximum height of 4 ft.
  • Prominent forehead
  • Flat nose
  • Delayed development in infants (sitting, walking, crawling)
  • Large separation
  • Poor muscle tone and loose joints
  • Crowded or crooked teeth
  • Short spells of slow or stopped breathing (apnea)
  • Small canals in the spinal bones can cause breathing problems


How is achondroplasia diagnosed in a child?

Achondroplasia is a condition that causes people to have an average-sized trunk but short arms and legs. Babies born with this condition are noticeably smaller than other babies in their families. Babies with achondroplasia usually appear very stocky or compact, with a large skull and small joints. While there isn’t much you can do to stop your child from being born with achondroplasia, you can help them feel good by making sure they get plenty of love and affection!

How is achondroplasia treated in a child?

There is no known cure for this disease, but different kinds of treatment can be done to help reduce or relieve any symptoms caused by the disease.

Surgery may be done to:

  • Treat hunchback (kyphosis)
  • Lengthen the legs, in some cases
  • Treat bowing of the legs

Other treatments may include:

1. Fixing dental problems – Orthodontists are dentists who have undergone numerous years of training and study-specific to correcting alignment issues with patients’ teeth.

2. Treating ear infections right away –  This is to avoid the risk of hearing loss.

3. Tests to look for bone problems – The spine needs to be checked so that breathing problems are prevented. Breathing problems often pop up when the upper end of the spine is compressed. It’s equally important to check other bones in order to prevent leg pain or loss of functionality.

Treatment with growth hormone does not affect the height of a person with achondroplasia as much.

What are possible complications of achondroplasia in a child?

Health problems are common in children and adults with achondroplasia. Just like any other person, there are some health limitations for people with dwarfism. Not all of the below problems occur in every child or adult with achondroplasia. Every single one can be treated by the team at your nearest hospital who work specifically on patients that suffer from any sort of medical complications due to a condition called dwarfism. People under this particular medical term can experience:

  • No breathing for a short period of time: Babies often have episodes of apnea. This is typical and normal for infants. In many cases, surgery to remove the tonsils helps with this problem and eliminates the need for a breathing machine (and can even eliminate medications altogether in most cases).
  • Regular ear infections: These may need to be treated with ear tubes.
  • The buildup of fluid in the brain (hydrocephalus): This may need to be cared for with the insertion of a tube called a shunt. 
  • Posture problems: Children may develop kyphosis in their back, which refers to a slight spinal curvature. It is often corrected as children acquire motor skills and posture corrects. Physical therapy may help correct lordosis, wherein the lower back curves inward. 
  • Dental problems: Crowded or crooked teeth may need to be treated by an orthodontist. 
  • Obesity: Your child’s doctor can advise on healthy eating as well as what activities will help them stay active and healthy.


Can achondroplasia be prevented in a child?

Most cases of achondroplasia happen in families with no history of the condition, which makes it difficult to prevent. If your child has achondroplasia, a genetic counselor can give you information about the possibility of passing the condition on to your grandchildren.

When should I call my child’s healthcare provider?

If your child has achondroplasia, call the healthcare provider if your child has:

  • Back pain
  • Tingling or weakness in the arms or legs
  • Trouble breathing
  • New symptoms or symptoms that get worse