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Health condition · Clinically reviewed

Encephalocele, a rare neural tube defect - detected early, treated by a specialist team.

A congenital gap in the skull through which brain tissue, meninges and CSF can herniate. Care sits in specialist UK paediatric neurosurgery and craniofacial centres - and starts, where possible, before birth.

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A radiographer guides a patient onto the bed of an advanced 3 Tesla MRI scanner in a London imaging suite

Why trust this guide

  • 01

    Clinically reviewed

    Written by our editorial team and reviewed by a UK-registered clinician before publication.

  • 02

    Sourced from guidance

    Checked against NHS specialist commissioning standards, RCPCH and peer-reviewed neurosurgical literature.

  • 03

    Current for 2026

    Reflects current UK paediatric neurosurgery and craniofacial practice, including endoscopic skull-base approaches.

Key facts

Encephalocele at a glance.

The essentials, in plain English - what it is, how common it is, and how UK specialist teams organise care.

  • What it is

    A rare congenital neural tube defect where brain tissue, meninges and CSF herniate through a defect in the skull.

  • How common

    Around 0.8 to 4 in every 10,000 live births, depending on population and region.

  • Types

    Occipital (most common in the West), frontoethmoidal (more common in Southeast Asia), parietal, basal and atretic.

  • Why it happens

    Failure of neural tube closure - influenced by folic acid status, genetics and environmental factors.

  • Prevention

    Preconception and first-trimester folic acid - 400 micrograms for most, 5 mg for high-risk pregnancies.

  • Care pathway

    Specialist paediatric neurosurgery and craniofacial MDT - delivered through nationally commissioned UK centres.

Why this guide matters

A rare condition, but a well-mapped pathway.

Encephalocele is uncommon, but UK specialist services see it regularly and follow clear standards - from antenatal diagnosis to lifelong follow-up.

  • Antenatal detection changes options

    Most cases are picked up on the 20-week scan - allowing counselling, delivery planning and specialist care from birth.

  • Surgery is specialist-led

    Closure sits with paediatric neurosurgery and craniofacial teams in nationally commissioned UK centres - not routine general services.

  • Outcomes depend on detail

    Size, location, contents and associated anomalies matter more than the label - and shape the long-term outlook.

How the diagnosis is made

From anomaly scan to a coordinated plan.

The steps a UK fetal medicine and paediatric neurosurgery team will normally follow, in order - so you know what to expect and why.

  1. 01

    Detecting

    Antenatal anomaly scan

    The 20-week scan often detects an encephalocele - a cystic or mixed lesion protruding through a skull defect.

  2. 02

    Detecting

    Fetal MRI and specialist review

    Fetal MRI clarifies contents, associated brain anomalies and prognosis - reviewed by maternal-fetal medicine and paediatric neurosurgery.

  3. 03

    Detecting

    Antenatal counselling

    Detailed counselling on prognosis, delivery planning, postnatal care and continuation options - supported by fetal medicine and genetics.

  4. 04

    Confirming

    Neonatal examination

    A visible skin-covered or open midline mass, plus screening for microcephaly, hydrocephalus and associated anomalies.

  5. 05

    Confirming

    Postnatal MRI, CT and genetics

    MRI of brain and spine, CT of the skull base for bony detail, and genetic testing including microarray and whole-exome sequencing where indicated.

  6. 06

    Planning

    MDT plan and surgical timing

    A paediatric neurosurgery, craniofacial, genetics and rehabilitation MDT sets timing of surgery, CSF diversion and long-term follow-up.

  7. 07

    Planning

    Family and genetic counselling

    Recurrence risk, folic acid 5 mg preconception for future pregnancies, and links to charities such as SHINE UK and Contact.

Typical timeline: from antenatal detection to a specialist MDT plan within weeks.

Types and signs

What encephalocele looks like.

Presentation depends on where the defect sits, how big it is and what it contains - from an obvious swelling at birth to hidden basal defects presenting later with CSF leak.

  • Occipital swelling at birth

    The most common Western pattern - a midline mass at the back of the head, skin-covered or open.

  • Frontoethmoidal (sincipital) mass

    A midline swelling of the naso-frontal, naso-ethmoidal or naso-orbital region - more common in Southeast Asia.

  • Parietal encephalocele

    A less common variant on the top of the head - often associated with underlying brain anomalies.

  • Basal encephalocele

    Hidden inside the skull base - may present later with CSF rhinorrhoea, meningitis, hypertelorism or a midline facial cleft.

  • Atretic encephalocele

    A small vestigial subcutaneous nodule, usually parietal or occipital - a limited form with a better outlook.

  • Microcephaly and hydrocephalus

    Around half of children have a small head, and many develop hydrocephalus needing CSF diversion.

  • Associated brain anomalies

    Corpus callosum agenesis, Chiari malformation and cortical malformations may sit alongside the encephalocele.

  • Red flag - CSF leak or meningitis

    Clear watery nasal discharge or unexplained meningitis in a child needs urgent review for a basal encephalocele.

Treatment

How encephalocele is managed in the UK.

Specialist paediatric neurosurgery and craniofacial teams lead care - antenatal counselling, surgical closure, CSF diversion where needed, and long-term multidisciplinary follow-up.

  • Antenatal fetal medicine care

    Detailed scanning, fetal MRI, genetic testing and counselling in a specialist maternal-fetal medicine service, with delivery planning.

  • Neonatal specialist assessment

    Airway, feeding and neurological review, plus MRI, CT and genetic workup in a paediatric neurosurgical centre.

  • Surgical closure

    Excision of non-viable herniated tissue, watertight dural repair and reconstruction of skull and skin - timing individualised, usually days to months.

  • Endoscopic endonasal repair

    For basal encephalocele - a minimally invasive route through the nose, combining rhinology and skull-base surgery.

  • CSF diversion

    Ventriculoperitoneal shunt or endoscopic third ventriculostomy (ETV) when hydrocephalus develops before or after closure.

  • Craniofacial reconstruction

    Staged surgery for frontoethmoidal defects - correcting hypertelorism, orbital position and facial appearance over time.

  • Multidisciplinary follow-up

    Paediatric neurology, ophthalmology, ENT, endocrinology, rehabilitation and psychology - developmental and educational support built in.

  • Genetic counselling and support

    Recurrence risk advice, folic acid 5 mg for future pregnancies, and signposting to SHINE UK, Contact and craniofacial support networks.

What this guide is based on

The sources behind every claim on this page.

UK specialist commissioning standards, paediatric guidance and peer-reviewed neurosurgical literature, current at the time of last review.

Key references

Guidelines and standards we relied on.

A quiet reminder

This guide is for information, not medical advice.

Your fetal medicine team, paediatric neurosurgeon or GP knows your family and history, and can tell you which parts apply to you. If in doubt, ask.

  • NHS England. Specialist services for paediatric neurosurgery and craniofacial conditions (service specifications).

  • Royal College of Paediatrics and Child Health (RCPCH). Standards for children with rare and complex conditions.

  • World Health Organization. Neural tube defects - prevention with folic acid.

  • Peer-reviewed neurosurgical literature on classification, surgical technique and outcomes for encephalocele.

Red flags

When to escalate urgently.

Encephalocele care is specialist-led, but these are the situations - antenatal or postnatal - where escalation cannot wait.

  • CSF leak from the nose or ear

    Clear, watery, salty-tasting discharge - especially with a bending or straining trigger - needs urgent ENT and neurosurgical review for basal encephalocele.

  • Recurrent meningitis

    More than one episode of bacterial meningitis in a child should prompt imaging to look for an occult skull-base defect.

  • Rapid head growth or bulging fontanelle

    Signs of hydrocephalus - needs same-day paediatric neurosurgical assessment.

  • Reduced feeding or drowsiness in a newborn

    Non-specific but important - always warrants prompt medical review, particularly with a known encephalocele.

  • Open, leaking or infected sac

    An open or leaking encephalocele is a surgical emergency to prevent meningitis and further neurological damage.

  • New neurological deficit

    Loss of milestones, new weakness, seizures or visual change needs urgent paediatric neurology input.

  • Antenatal diagnosis without a plan

    A newly detected encephalocele on scan should trigger urgent referral to fetal medicine and paediatric neurosurgery - not a wait-and-see approach.

  • Airway or feeding concerns

    Large frontoethmoidal or basal lesions can affect breathing and feeding - a specialist airway plan matters before delivery.

  • Family history of neural tube defects

    Signals a higher-risk pregnancy - 5 mg folic acid preconception and early specialist input are the standard response.

Living with it

A lifelong pathway, held by one team.

Four things that shape day-to-day life with an encephalocele - a coordinated team, developmental focus, family planning and long-term support.

A quiet reminder

Rare does not mean alone.

UK specialist centres and patient charities have deep experience of encephalocele - a coordinated team and a peer network make a real difference.

  1. 01 Team

    One MDT, many specialists

    Care sits in a specialist commissioned centre - neurosurgery, craniofacial, neurology, ENT, genetics and rehabilitation working from one plan.

  2. 02 Development

    Watch development, not just scans

    Regular developmental reviews shape therapy, schooling and support - as important as the surgical follow-up.

  3. 03 Family

    Plan for future pregnancies

    Genetic counselling and 5 mg folic acid preconception reduce recurrence risk and inform decisions about future children.

  4. 04 Support

    You are not doing this alone

    SHINE UK, Contact and craniofacial charities connect families to peers, benefits advice and long-term practical help.

Frequently asked

Everything families ask about encephalocele.

Quick answers on causes, prevention, diagnosis, surgery and long-term outlook.

  • What is an encephalocele?

    It is a rare congenital condition where part of the brain, its coverings (meninges) and cerebrospinal fluid herniate through a gap in the skull. It is a type of neural tube defect and forms very early in pregnancy. Size, location and contents determine how it presents and how it is treated.

  • What causes it?

    The main mechanism is failure of the neural tube to close properly in the first few weeks of pregnancy. Folic acid deficiency is the biggest modifiable risk factor. Rare genetic syndromes (such as Meckel-Gruber or Walker-Warburg), chromosomal changes and some environmental exposures can also contribute.

  • Can it be prevented?

    Preconception and first-trimester folic acid substantially reduce the risk of neural tube defects, including encephalocele. Most women take 400 micrograms daily. Women at higher risk - for example those with a previous affected pregnancy, epilepsy medication, diabetes or obesity - are usually advised to take 5 mg daily under specialist guidance.

  • How is it diagnosed?

    Many cases are picked up on the 20-week anomaly scan, then clarified with fetal MRI and specialist review. After birth, MRI of the brain and spine and CT of the skull base map the defect and its contents. Genetic testing, including microarray and whole-exome sequencing, looks for underlying syndromes.

  • What does treatment involve?

    Care is delivered by a specialist paediatric neurosurgery and craniofacial multidisciplinary team in a nationally commissioned UK centre. Surgery closes the defect - excising non-viable brain, repairing the dura and rebuilding skull and skin. Basal encephaloceles can sometimes be repaired through the nose using endoscopic skull-base surgery. Hydrocephalus is managed with a shunt or ETV.

  • What is the outlook?

    Prognosis varies widely. It depends on the size and location of the defect, how much and what kind of brain tissue is herniated, and whether there are associated brain or systemic anomalies. Small atretic lesions often do very well; large occipital or syndromic cases can be much more serious. Long-term multidisciplinary follow-up shapes developmental, educational and family support.

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