Achondroplasia is a bone growth disorder that results in dwarfism due to a genetic mutation in the arms and legs. Achondroplasia is the most common form of short stature (adults less than 4-ft. 10-in. in height). Almost all children with achondroplasia are able to live full and healthy lives after diagnosis.
In the early stages of development, much of the fetal skeleton is made up of cartilage tissue, which turns into bone. Achondroplasia occurs when cartilage tissue doesn't develop in the bones of your arms and legs. This genetic disorder leads to short-limb dwarfism with the upper parts of arms and legs shorter than the lower portions of those limbs (rhizomelic shortening).
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Achondroplasia is the most common form of skeletal dysplasia, which is the umbrella term used to identify hundreds of conditions that affect the growth of bones and cartilage. Achondroplasia specifically targets bone growth in your arms and legs.
About 1 in 15,000 to 1 in 40,000 individuals are born with achondroplasia.
Infants born with achondroplasia normally have weak muscle tone (hypotonia), which could delay motor skill development. There’s is also a high risk of spinal cord compression and upper respiratory blockages among infants, which increases the risk of health complications.
It is common for people with achondroplasia to have breathing problems, recurrent ear infections and be prone to obesity.
All children with achondroplasia should be carefully monitored regularly by a healthcare provider to treat or prevent any symptoms that may arise.
Achondroplasia is caused by a gene mutation in the receptor that converts cartilage to bone during fetal development.
Doctors can use ultrasounds to detect achondroplasia before birth if your baby’s arms and legs appear shorter than average and if their head is large. Most cases of achondroplasia aren't confirmed until after birth.
There is no specific treatment for achondroplasia other than managing symptoms. Monitoring height, weight and head circumference is recommended during early diagnosis in infants to track growth progress.
No, there's no cure for achondroplasia, but almost everyone who's diagnosed is able to live a full and healthy life.
Management of achondroplasia is focused on taking care of potential complications, which may include:
Since achondroplasia is a rare genetic condition that's often the result of a new gene mutation, there's no way to prevent those random cases. If a parent has achondroplasia, the chance to pass it on could be significantly decreased through preimplantation genetic testing. If you’re interested in learning more, please should speak with your OB/GYN provider.
The majority of people living with achondroplasia have a normal life span and normal intelligence, regardless of delayed development in infancy. Though complications from achondroplasia are a possibility, taking care of symptoms can help prevent serious health problems from occurring later in life.
Children diagnosed with achondroplasia can lead healthy and full lives. After treating your child’s medical needs, focus on providing a welcoming environment for your child to thrive by:
Staying regular with checkups during infancy and throughout childhood can prevent many symptoms of achondroplasia from occurring.
Contact your healthcare provider during early infancy if your child isn’t meeting height benchmarks for their age or you’re seeing developmental delays in physical goals, like sitting, crawling and walking.
If your child’s having problems breathing, frequently gets ear infections, having back and leg pain or is at risk of obesity, seek treatment from a healthcare professional.
A note from Cleveland Clinic
Though health complications may occur during childhood, the diagnosis of achondroplasia won’t hinder your child’s ability to live a happy and healthy life. Having a positive outlook can make a difference in your child’s self-esteem, especially by being inclusive and caring for your child according to their age, not their size.
Last reviewed by a Cleveland Clinic medical professional on 12/10/2021.
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