Pseudoachondroplasia
Pseudoachondroplasia is an inherited bone growth disorder.
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