Pseudoachondroplasia

Pseudoachondroplasia is a form of dwarfism. Children with pseudoachondroplasia have a normal head size and facial features, and their intelligence is also normal. However, they are small in stature.

Causes

Most cases of pseudoachondroplasia result from a gene mutation and occur in families with no history of the disorder. However, pseudoachondroplasia can also be inherited.

Symptoms

Common signs and symptoms of pseudoachondroplasia are:

• Short limbs
• Delay in crawling and walking
• Joint pain
• Limited range of motion at elbows or hips
• May walk with a waddle
• Scoliosis
• Joint laxity (looseness)

Diagnosis

Some forms of dwarfism that can be detected before a baby is born. However, pseudoachondroplasia is usually not detected until a child reaches the age of 2 or 3, when a slowed growth rate becomes more apparent.

To determine if your child has pseudoachondroplasia, your expert doctor may perform one or a combination of tests. These tests may include:

• Imaging tests such as X-rays, MRIs and CT scans and EOS imaging
• Physical exam
• Genetic testing

Treatment 

Our expert doctors will determine the best course of treatment based on multiple factors. Treatment for children with Pseudoachondroplasia varies greatly because the condition can affect several different body systems. Some children will only require careful monitoring. Others will need non-surgical or surgical treatments to address specific aspects of their condition.

Possible non-surgical treatments our doctors may offer or recommend to treat your child’s Pseudoachondroplasia include:

• Bracing
• Casting
• Medication
• Physical therapy

See more information

Skeletal Dysplasia