Meeting someone with PURA syndrome? Start here.
A short, sourced briefing for NHS clinicians, GPs, school staff and SENCOs, social workers and therapists. It links to the published evidence and to the free printable sheets families may bring to you.
- Last reviewed
- Every link checked at source
- Not clinical guidance
- GenePURA, chromosome 5q31.3. Usually a new (de novo) change, or a 5q31.3 deletion that includes PURA.
- OMIM616158 (condition) · 600473 (gene)
- OrphaORPHA:438213, with subtypes 438216 (point variant) and 314655 (5q31.3 deletion)
- AlsoPURA-related neurodevelopmental disorder (PURA-NDD); NEDRIHF
Sources: GeneReviews, MedGen, Orphanet.
What PURA syndrome is
A plain summary of the published literature. It isn't clinical guidance: please use the sources below and your own specialist teams.
PURA syndrome is a rare genetic neurodevelopmental condition caused by a change in, or loss of, one copy of the PURA gene on chromosome 5. In most people the change is new (de novo) rather than inherited. A related group of people have a larger 5q31.3 deletion that includes PURA and nearby genes (GeneReviews).
It was first described in 2014 (Lalani et al.; Hunt et al.). GeneReviews summarises it as moderate-to-severe neurodevelopmental delay, with no speech in most people and many not walking independently. Early problems can include low muscle tone (hypotonia), low body temperature, excessive sleepiness, feeding difficulties, excessive hiccups, central and obstructive apnoeas, epileptic seizures, non-epileptic movements and visual problems. Heart, urogenital, skeletal and endocrine differences occur but are less common.
In a cohort of 32 people plus 22 previously published cases (Reijnders et al., 2018), all had moderate to severe intellectual disability. Neonatal hypotonia was reported in 96%, feeding difficulties in 77%, gastrointestinal problems in 69%, hypersomnolence in 66% and epilepsy in 54%. No strong genotype–phenotype correlation was found.
Every person is different. Many families find that clinicians are meeting PURA for the first time. The family usually knows the person best, and a short “All about me” care pack or emergency card may be the quickest way to learn how they communicate.
Key published sources
Every link goes to the original source. Some journal and database sites (OMIM, BMJ, Neurology) block automated checks, so we checked those by hand.
Clinical summaries
- PURA-Related Neurodevelopmental DisordersGeneReviews (NCBI Bookshelf)The standard clinical summary, with suggested evaluations after diagnosis and a management table.
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndromeOrphanet · ORPHA:438213European rare disease reference: definition, classification and linked expert resources.
- Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia and feeding difficulties (NEDRIHF)OMIM · 616158Clinical synopsis and literature. The gene entry is OMIM 600473.
- PURA syndromeMedlinePlus Genetics (US National Library of Medicine)A plain-language summary that's easy to share.
- Clinical Considerations for PURA (clinician handout, Oct 2026)PDF, published by the PURA Syndrome FoundationA five-page handout written for any clinician meeting PURA for the first time. It isn't a formal guideline. We're independent and not affiliated with the Foundation.
Published papers
- Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndromeLalani SR et al. Am J Hum Genet 2014 · doi:10.1016/j.ajhg.2014.09.014
- Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disabilityHunt D et al. J Med Genet 2014 · doi:10.1136/jmedgenet-2014-102798Four cases, three of them found through the UK Deciphering Developmental Disorders (DDD) study.
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literatureReijnders MRF et al. J Med Genet 2018 · doi:10.1136/jmedgenet-2017-104946
- PURA-related developmental and epileptic encephalopathy: phenotypic and genotypic spectrumJohannesen KM et al. Neurol Genet 2021 · doi:10.1212/NXG.0000000000000613142 people: 60% developed epilepsy, often drug-resistant, with EEG findings described.
- Genotype-phenotype variations in PURA syndrome: Asian and non-Asian perspectives from a systematic reviewLiu SN et al. Orphanet J Rare Dis 2025 · doi:10.1186/s13023-025-03908-9
- 5q31 duplications encompassing PURA are associated with a neurodevelopmental disorderChalleat L et al. Eur J Hum Genet 2026 (open access)Describes extra copies of the region as a separate, milder condition.
For current studies and research news in plain English, see our research tracker.
UK genetics services and family support
- NHS Genomic Medicine Service (England)NHS EnglandHow genomic testing and clinical genetics are organised in England. See also the National Genomic Test Directory.
- All Wales Medical Genomics ServiceNHS Wales
- Genetics laboratory services in ScotlandNHS National Services ScotlandFour regional centres (Aberdeen, Dundee, Edinburgh, Glasgow) working through the Scottish Strategic Network for Genomic Medicine.
- Clinical Genetics Service (Northern Ireland)Belfast Health and Social Care Trust
- UK genetic clinic directoryBritish Society for Genetic Medicine
- PURA syndrome and 5q31 deletions: a guide for familiesUnique (PDF)Written for families. A good one to hand over after a diagnosis.
- Contact: for families with disabled childrenUK charityFree helpline and advice on benefits, education and services.
- SWAN UK and Genetic Alliance UKUK charity
Useful pages for your role
Plain-English guides written for UK families. They're also a quick way to see what families are being told about their rights and services.
NHS clinicians and GPs
Paediatricians, neurologists, geneticists, GPs, nurses and A&E teams.
Schools, nurseries and SENCOs
Teachers, teaching assistants, SENCOs, ALNCos and school nurses.
Social workers and care teams
Children's and adults' social care, short breaks and transition teams.
Therapists
Physiotherapists, OTs, speech and language therapists and dietitians.
What a family might bring to you
The PURA Family Directory is free, independent and run by a PURA parent in the UK. Families use it to find services and to get ready for appointments and meetings. These are the tools they're most likely to bring along.
The directory
Verified UK therapists, AAC and equipment suppliers, respite, benefits help and charities, each linked to its source and tagged by nation.
Browse the directoryAn “All about me” care pack
Families fill in how the person communicates, shows pain, eats, moves and what helps. It's saved only on their own device.
See the care packEmergency card
A wallet card and phone lock-screen image with the condition, communication, medicines, allergies and contacts.
See the emergency cardAppointment prep sheet
A one-page sheet of questions, “since last time” notes and medicines that families bring to appointments.
See the prep sheetSeizure diary
A private log families can print or download as a spreadsheet to share with their team.
See the seizure diaryWhat-to-ask checklists
One-page lists for first appointments, therapy, AAC, seating, feeding, school meetings and adult services.
See the checklistsFree sheets to print or share
All free, with no sign-up. Nothing a family types into them is sent to us. Please feel free to print them for families you work with.
- Explaining PURA: school and nursery staffOne A4 page with an “About my child” section the family fills in.
- Explaining PURA: new carers and support workersFor respite workers, personal assistants and new members of a care team.
- All Explaining PURA sheetsAlso for grandparents and family, and a child-friendly sheet for brothers and sisters.
- Emergency info cardPrints at bank-card size, two to a page.
- Appointment prep sheetEleven appointment types, on one A4 page.
- Care pack: “All about me”Prints on three A4 pages, filled in or blank.
- Printable checklistsTen one-page “what to bring and what to ask” lists.
- Clinical Considerations for PURA (PDF)The PURA Syndrome Foundation's clinician handout. External link.
School support works differently in each UK nation
Each guide explains the plan, who writes it, the legal time limits and where families can get free advice, with links to the official sources.
The Wales guide is also available yn Gymraeg (machine translation).
Spotted something out of date?
If you work with people with PURA syndrome and something here is wrong, missing or out of date, please tell us. We check every correction against its source before we change anything. Please don't send any patient details.
Questions from professionals
Is this clinical guidance?
No. It's general information, summarised from the sources we link. It isn't a clinical guideline and doesn't replace specialist advice. Please use the original sources and your own clinical networks.
Are you linked to any PURA organisation or NHS body?
No. The PURA Family Directory is independent. We aren't affiliated with any PURA organisation, NHS body, charity or provider we link to, and linking to a resource isn't an endorsement by them or of them.
Can I print the sheets for families I work with?
Yes, please do. Every sheet and checklist is free to print and share. The fill-in versions are saved only on the device being used.
Can I suggest a resource or a correction?
Yes, we'd really welcome that. Send us a correction or suggestion, with a link to the source. We check every change against the original before we publish it.
How do you check what's here?
Every fact links to its source, and links are re-checked regularly. Our editorial policy explains how.
This page is information only, not medical advice. In an emergency, call 999. Read our medical disclaimer.