Snyder-Robinson syndrome is a rare condition characterized by global developmental delay/intellectual disability, which can range from mild to severe, kyphoscoliosis, osteoporosis that develops early in life, and thin body built. Children often have a low muscle tone at birth. Seizures are often present and can start early in life. People with this condition can also present with abnormalities of the kidneys or of the urinary tract, hearing impairment, and recurrent respiratory infections.
SMS