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Achondroplasia is the most common type of short-limb short stature. It is a genetic disorder that affects bone growth.
Individuals with achondroplasia have disproportionate short stature and certain characteristic features. Intellect is typically normal.
It is estimated that
one in 22,000 people are born with achondroplasia. Occurrences of achondroplasia are present among all racial groups and affect both males and females equally.
Achondroplasia is a condition one is born with. It can sometimes be diagnosed before birth by antenatal ultrasound scans in the third trimester.
The severity of symptoms may vary from person to person, even among family members with achondroplasia.
The main features include:
The following issues can also be present in individuals with achondroplasia, and need to be monitored for and treated if present:
Genes are instructions for cells to make proteins in the body. Achondroplasia is the result of a pathogenic (disease-causing) change in the
FGFR3 gene located on chromosome 4.
This gene provides instructions for a protein that is important for bone growth. When there is a pathogenic change in the
FGFR3 gene, the protein is affected and bone development is impacted.
This causes affected individuals to be short, and have shortened upper limbs, hands and feet. Bones in the spine and legs are also at risk of curving.
Everyone carries two copies of each gene, one inherited from each parent.
Achondroplasia follows a dominant inheritance pattern, which means that a pathogenic change in one copy of the FGFR3 gene can cause achondroplasia. If one parent has achondroplasia, a child has a 50% chance of inheriting the disease.
About 80% of people with achondroplasia have parents who are of average height, while the remaining 20% have at least one parent who has achondroplasia.
Achondroplasia is diagnosed after a full evaluation by a doctor familiar with the disorder. This involves a physical examination and radiological evaluation.
Genetic testing for a causative pathogenic (diseasecausing) variant in the FGFR3 gene can also be helpful to establish a diagnosis in some cases.
In the past, there was no known cure for achondroplasia or way to reverse its effects.
Voxzogo (vosoritide) is a drug that has been introduced to treat achondroplasia, which was approved in 2021. It has been shown to improve annual growth rate in children with achondroplasia and promote proportional growth.
The multidisciplinary medical team looking after your child will be able to address specific medical concerns and related health issues.
Below are some related medical issues and how they can be managed: