What is Snyder-Robinson Syndrome

Snyder-Robinson Syndrome (SRS) is a rare genetic disorder that primarily affects males. It is characterized by intellectual disability, developmental delays, and skeletal abnormalities. SRS is caused by mutations in the Spermine Synthase (SMS) gene, which is responsible for the production of spermine, an essential polyamine involved in various cellular processes.

Intellectual disability is a key feature of SRS, with affected individuals typically experiencing learning difficulties and delayed speech development. Additionally, developmental delays may manifest in motor skills, such as walking and coordination.

Skeletal abnormalities are another hallmark of SRS. These can include abnormal curvature of the spine (scoliosis), joint problems, and reduced bone density.

Individuals with SRS may also exhibit distinctive facial features, such as a prominent forehead, a wide nasal bridge, and a pointed chin. Other potential symptoms include seizures, low muscle tone, and gastrointestinal issues.

As SRS is a genetic disorder, there is currently no cure. Treatment primarily focuses on managing the symptoms and providing support to individuals and their families. This may involve therapies to address developmental delays, educational interventions, and specialized medical care.