PURA syndrome was first described in 2014. It is a rare genetic condition caused by a change in the PURA gene. To have the condition you only need one of your two PURA genes to be mutated or deleted.
Approximately 270 people are known to have PURA syndrome, however with increasing awareness and knowledge about this condition we expect this number to increase.
PURA syndrome most commonly causes developmental delay and moderate to severe learning disability. Speech and motor development (such as crawling and walking) is often severely delayed. The other difficulties that people with PURA syndrome face are variable. We know that those with PURA syndrome can have seizures/fits, epilepsy, abnormal movements, floppiness (hypotonia), breathing difficulties, feeding difficulties, problems regulating temperature and be very sleepy. Some parents of children with PURA syndrome report that during pregnancy their baby had lots of hiccups. We also know that PURA syndrome can also affect the bones, gut, eyes and hormones.
As the condition was only identified recently, further research is needed to understand the syndrome further.
Further information and support can be found via the PURA Syndrome Foundation website at https://www.purasyndrome.org/.