Resources
We envision this section of the website will have country by country resources and state by state resources for those living in the United States along with other helpful materials for our PURA families. Keep checking back as we will continue to add these items.
About PURA
Looking for a simple way to describe PURA Syndrome to your family or friends? Use these graphics as a starting point.
Clinical Considerations for PURA:
A Handout for Clinicians
Description:
This 5-page guide from the PURA Syndrome Foundation is for any clinician caring for a person with PURA syndrome (OMIM #616158). It covers:
- Recognized clinical features across organ systems
- Four principles for thinking about PURA clinically
- A checklist of evaluations at diagnosis and for long-term follow-up
- Acute care and hospital considerations
- Genetic counseling points
- How clinicians can support the growing PURA research effort
The content is drawn from the Foundation’s resources and the GeneReviews chapter on PURA-related neurodevelopmental disorders. It is not a formal clinical practice guideline, because no consensus guidelines for PURA syndrome exist yet. Last updated October 2026.
Available in English, Español, Français, Português, Polski, Deutsch, Italiano, Nederlands and 日本語.
PURA Syndrome Clinician Handout- English
PURA Syndrome Clinician Handout – Español
PURA Syndrome Clinician Handout – Italiano
PURA Syndrome Clinician Handout – Português
PURA Syndrome Clinician Handout – Deutsch