Children's Hospital Colorado

Diastrophic Dysplasia

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What is diastrophic dysplasia? 

Diastrophic dysplasia is a rare condition that affects the development of bones and cartilage. It’s a congenital disease, meaning babies are born with it.

Diastrophic dysplasia is a skeletal dysplasia that causes a type of dwarfism. The condition is also called diastrophic dwarfism.

Diastrophic dysplasia often affects children’s bone growth and overall height. It doesn’t affect their intellectual or mental development. With proper medical care, children with diastrophic dysplasia can live full, long lives.

What causes diastrophic dwarfism?

A change (mutation) in the SLC26A2 gene (formerly known as DTDST) causes diastrophic dysplasia. This gene makes a protein that supports cartilage and bone development.

Parents pass this gene change to their children. Diastrophic dysplasia is an autosomal recessive condition, meaning both parents need to have the gene mutation for their child to develop the condition. Because it’s a recessive condition, a child must have two copies of the mutated gene to be affected. Parents who are “carriers” have only one copy of the gene, and may not even know they carry it.

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