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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.[10353][10354][14282][14283]
PURA syndrome occurs when one of a person’s two copies of the PURA gene, located on chromosome 5, does not function normally.[10353][10354] This can be caused by a spelling mistake (variant or mutation) in the gene or by loss of one copy of the gene (deletion).[10353] Because the features of PURA syndrome are common, a genetic test (such as whole genome sequencing) is needed for diagnosis.[10354] 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.[10353][10354]
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