What is Diastrophic Dysplasia?
Diastrophic dysplasia is a rare genetic disorder that affects one’s ability to form cartilage and bones causing abnormal bone growth and dwarfism (short stature). Most also have early-onset joint pain and deformities called contractures, which restrict movement. These joint problems tend to worsen with age.
Causes of Diastrophic Dysplasia
Diastrophic dysplasia is an autosomal recessive genetic disorder caused by a mutation in a gene responsible for making a protein needed to develop cartilage and convert it to bone. Most of the time, the mutated gene is inherited from one's parents, but in a small number of cases, the mutation happens randomly.
Symptoms of Diastrophic Dysplasia
Symptoms include:
- Limbs shortening
- Scoliosis
- Hip dysplasia
- Joint deformities
- Foot deformities
- Hernia
- Deformity of the cartilage of the ear
- Cleft palate
- Clubfoot
Diagnosis of Diastrophic Dysplasia
Your doctor diagnoses diastrophic dysplasia with a thorough physical examination, complete medical history, and diagnostic tests. Diagnostic procedures may include:
- X-rays
- MRI or CT scan
- Arthrograms
- Blood tests
- Genetic testing
- Radioisotope bone scan
Treatment for Diastrophic Dysplasia
Diastrophic dysplasia does not involve any specific treatment as treatment is determined on a case-by-case basis. For example, complications like scoliosis and clubfeet are often treated with surgery or the use of special braces or shoes to realign the bones. The goal of treatment is to identify any irregularities in growth or development and to address any issues as they develop.
