Diastrophic Dysplasia

Before a baby is born, much of their skeleton is made up of cartilage that is eventually converted to bone through a process called ossification. Diastrophic dysplasia is a condition that affects this normal process of cartilage converting to bone. It results in a form of dwarfism that includes short stature, joint and hand deformities, and abnormal curving of the spine.

Causes

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.

Symptoms

Common signs and symptoms of diastrophic dysplasia are:‍

• 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

Diagnosis

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

Treatment

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.

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

• Bracing
• Casting
• Medication
• Physical therapy