SRD5A3-CDG is a gene that is associated with the development of certain types of cancer. It is located on chromosome 5 and is thought to be involved in the regulation of cell growth and differentiation.

The symptoms of SRD5A3-CDG vary from person to person, but can include developmental delays, intellectual disability, seizures, hypotonia, ataxia, vision and hearing problems, and skeletal abnormalities. Other symptoms may include facial dysmorphism, cardiac defects, and gastrointestinal issues.

SRD5A3-CDG is caused by a mutation in the SRD5A3 gene. This gene provides instructions for making an enzyme called steroid 5-alpha-reductase 3. This enzyme helps convert certain hormones into other hormones that are important for normal male sexual development. Mutations in the SRD5A3 gene reduce or eliminate the activity of this enzyme, leading to the signs and symptoms of SRD5A3-CDG.

At this time, there is no known cure for SRD5A3-CDG. Treatment focuses on managing the symptoms and complications of the disorder. This may include physical therapy, occupational therapy, speech therapy, dietary modifications, and medications to manage seizures, pain, and other symptoms. In some cases, surgery may be recommended to correct physical abnormalities.

The risk factors for SRD5A3-CDG are not well understood. However, it is believed that the condition is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated copy of the SRD5A3 gene in order for a child to be affected. It is also believed that the condition is more common in certain ethnic groups, such as those of Middle Eastern or North African descent.

At this time, there is no cure for SRD5A3-CDG. However, there are medications that can help manage the symptoms of the disorder. These medications include hormone replacement therapy, anticonvulsants, and anti-inflammatory medications. Additionally, physical and occupational therapy can help improve mobility and quality of life.