PURA syndrome

PURA syndrome is a neurodevelopmental disorder characterized by mild to moderate developmental delay, moderate to severe intellectual disability, seizures and seizure-like movements, low muscle tone (hypotonia), feeding difficulties, and breathing problems. Additional signs and symptoms may include autism; excessive drowsiness; difficulty controlling body temperature; heart, gastrointestinal, eye and hormonal problems; skeletal problems such as an abnormal curvature of the spine (scoliosis) or a small hip socket that doesn't fully cover the upper thighbone, known as hip dysplasia;and short stature.

PURA syndrome occurs when one of a person's two copies of the PURA gene, located on chromosome 5, does not function normally. This can be caused by a spelling mistake (variant or mutation) in the gene or by loss of one copy of the gene (deletion). Because the features of PURA syndrome are common, a genetic test (such as whole genome sequencing) is needed for diagnosis. Treatment typically includes speech and language support as well as physical and occupational therapy and surgery to correct any birth defects or bone problems. Early intervention is important.