DID YOU KNOW?
A skeletal survey alone misses a clear diagnosis in 30% of skeletal dysplasia cases.
Some types of skeletal dysplasia can look very similar to one another on an X-ray image.
Some forms of skeletal dysplasia may be seen before a child is born. In those cases, the doctor may make an initial diagnosis of skeletal dysplasia based on an ultrasound. After birth, the most common way doctors diagnose skeletal dysplasia is through a skeletal survey, or a series of X-rays of the body. However, X-rays do not always provide a complete picture of a child’s diagnosis.
DID YOU KNOW?
Some types of skeletal dysplasia can look very similar to one another on an X-ray image.
Patients can often go years without a complete diagnosis. Without additional testing, skeletal dysplasia can be difficult to fully diagnose and can often go underdiagnosed for several years. This can interfere with a child getting the right management plan for their specific type of skeletal dysplasia.
Let’s look at some of the reasons why skeletal dysplasia can be challenging to diagnose:
For these reasons, reaching a confirmed diagnosis can take years for some children, making it difficult to choose the right path forward.
It took 9 years of searching for answers for Kobe to receive a confirmed diagnosis:
A skeletal dysplasia gene panel may have changed Kobe’s diagnosis timeline and his management plan.
