What is Pseudoachondroplasia?

Pseudoachondroplasia is a form of dwarfism. It is a rare inherited disorder that affects bone growth. People with pseudoachondroplasia have a normal head size, intelligence, and facial features. However, they are small in stature - typically under 4 feet tall for both men and women.

Symptoms are not apparent at birth; they usually develop around the age of 2 when your child’s growth rate decreases drastically due to the disorder.

Causes of Pseudoachondroplasia

Most cases of pseudoachondroplasia results from a gene mutation. A baby can inherit the gene defect if one or both of their parents have it. However, it can also occur in families with no history of the disorder.

Symptoms of Pseudoachondroplasia

Common symptoms of pseudoachondroplasia include:

Possible delay in crawling and walking
Short arms and legs
Joint pain
Walking with a waddle
Hip displacement
Knee deformities
Limited range of motion at the elbows and hips
Abnormal spinal curvatures such as an S-shaped or inward curve

Diagnosis of Pseudoachondroplasia

Pseudoachondroplasia is diagnosed with the help of several tests. These include a combination of imaging tests such as X-rays, arthrograms, MRIs, and CT scans, and in some cases EOS imaging, a technology that creates a 3-D image. Other studies include genetic testing to help identify any deformities in the DNA.

Treatment for Pseudoachondroplasia

Treatment varies since the condition affects many-body systems. Every child’s condition is different, so treatment is determined on a case-by-case basis. Some may only require careful monitoring, while others may require conservative interventions or surgery to address specific aspects of their condition.

Possible non-surgical treatment options include:

Braces for spinal support
Medication for joint pain
Physical therapy

Surgical options include spinal fusion or implanting growing rods to stabilize your child’s spine as they continue to grow.