Diastrophic Dysplasia is a rare genetic disorder that affects infants and children.
What is Diastrophic Dysplasia?
Diastrophic Dysplasia is a form of skeletal dysplasia, which is a group of disorders that affect bone growth and development.
Symptoms of Diastrophic Dysplasia
Children with Diastrophic Dysplasia may have short stature, abnormal facial features, and joint deformities.
Genetic Cause of Diastrophic Dysplasia
Diastrophic Dysplasia is caused by mutations in the SLC26A2 gene, which is responsible for producing a protein essential for cartilage development.
Treatment for Diastrophic Dysplasia
Treatment for Diastrophic Dysplasia may include physical therapy, orthopedic surgeries, and assistive devices to help with mobility.
Prognosis for Diastrophic Dysplasia
The prognosis for individuals with Diastrophic Dysplasia varies depending on the severity of the condition and the effectiveness of treatment.
Support for Families Affected by Diastrophic Dysplasia
Families of children with Diastrophic Dysplasia may benefit from connecting with support groups and seeking guidance from medical professionals.