Diastrophic dysplasia occurs when there is a mutation in the gene responsible for making a protein needed for ossification. Most of the time, the mutated gene is inherited from a child’s parents, but sometimes the mutation happens randomly.

Common signs and symptoms of diastrophic dysplasia are:

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• Short limbs
• Scoliosis
• Joint deformities
• Hip dysplasia
• Hernia
• Early-onset osteoarthritis and joint pain
• Cleft palate
• Swelling of the outside of the ears, leading to thickened, deformed ears

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

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

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There is no cure for this condition, so the goal of treatment is to help maintain your child’s mobility and strength. Our expert doctors will determine the optimal approach to treatment based on multiple factors as Diastrophic Dysplasia can affect several body systems and each child is different. Some children will only require careful monitoring. Others will need non-surgical or surgical treatments to address specific aspects of their condition.

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

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• Bracing
• Casting
• Medication
• Physical therapy

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