SNP Shot: Genomic Insights

Diastrophic dysplasia is a condition that affects how cartilage and bones grow. People with this disorder are short and have particularly short arms and legs. They commonly experience joint pain (osteoarthritis) that starts early in life, along with joint deformities known as contractures, which limit their range of motion. These joint issues frequently impair walking ability and become more pronounced as they get older. Other characteristics of diastrophic dysplasia include clubfoot (where the foot turns inward and upward), a spine that curves abnormally over time, and thumbs that are positioned unusually (hitchhiker thumbs). Approximately 50% of babies born with diastrophic dysplasia have a cleft palate. Newborns also frequently have swelling of their external ears, which can result in thickened and deformed ears.

The symptoms of diastrophic dysplasia resemble those of atelosteogenesis type 2, another skeletal disorder, but diastrophic dysplasia is generally milder. While some infants with this condition may have difficulty breathing, most individuals with diastrophic dysplasia live to adulthood.

Inheritance:

Diastrophic dysplasia follows an autosomal recessive inheritance pattern. This means that for someone to develop the condition, they must inherit a mutated copy of the responsible gene from each parent. Each parent carries one copy of the mutated gene but usually doesn't display any symptoms of the condition themselves.