PURA Syndrome

PURA Syndrome is a rare genetic disorder on chromosome 5 at 5q31.2. It is not hereditary. It can cause:

• Learning disabilities and developmental delay
• Seizures and seizure-like abnormal movements
• Speech disorders
• Hypotonia (Low muscle tone) 
• Feeding difficulties 
• Respiratory problems (including obstructive and central apneas)
• Hypersomnolence (excessive sleepiness)
• Constipation
• Abnormal vision
• Temperature instability
• Excessive hiccups
• Orthopedic issues including hip dysplasia and scoliosis
• Endocrine disorders such as Vitamin D deficiency