Smooth brain, isolated lissencephaly, cobblestone lissencephaly, pachygyria

What is lissencephaly?

Lissencephaly is a rare birth defect which causes the brain to have little folds to the surface causing it to be abnormally smooth.

There are two types of lissencephaly:

  • Type 1 – is known as isolated lissencephaly, where the brain is smooth and is the only organ that is affected. If associated with another syndrome, it can affect other organs in the body.
  • Type 2 – is known as cobblestone lissencephaly when the brain forms cobblestone like bumps.

What causes lissencephaly?

There are several possible causes for lissencephaly.

Type 1 and type 2 lissencephaly can be caused by mutations in different genes. These mutations can be inherited from a parent or may occur spontaneously during foetal development.

Lissencephaly can also be caused by an infection during pregnancy, lack of oxygen to the brain when in the womb or metabolic disorders.

What are the symptoms of lissencephaly?

Symptoms of lissencephaly can include:

  • Macrocephaly – when the head is unusually large.
  • Microcephaly – when the head is unusually small.
  • Epilepsy

Lissencephaly can be diagnosed as early as during an ultrasound, while a foetal MRI scan can detect the severity of the condition prior to giving birth.

As the child develops, there may be:

  • Developmental delays – sitting, standing, walking, talking.
  • Learning difficulties
  • Motor and movement difficulties
  • Eating problems
  • Sound and vision problems

Having these symptoms can lead to complications such as lung infections, seizures and difficulties with breathing.

Are you affected by lissencephaly?

If you’re affected by lissencephaly, The Brain Charity can support you.

We are the only charity in the UK to be here for every one of the more than 600 different neurological conditions in existence. Individually, many are rare, but combined, they affect 1 in 6 people.

We provide practical help on all aspects of living with lissencephaly, emotional support such as counselling, phone befriending and group therapy and social activities to people with lissencephaly from all over the UK from our centre in Liverpool.

Looking to talk to someone?

Woman smiling, making eye contact and holding the hand of another woman to comfort her

Phone us

Contact The Brain Charity now

Our friendly Information & Advice Officers are here to help. We endeavour to respond to all enquiries within 10 working days.

0151 298 2999

Looking to talk to someone?

  • Please tell us which neurological condition you are affected by and what you need support with.

Caring for someone with lissencephaly

We support carers, friends and family too

Are you a carer for or relative of someone with lissencephaly? It’s just as important for you to look after your own physical and mental wellbeing too.

The Brain Charity provides free support for carers, friends and family of people with any form of neurological condition, including lissencephaly, from anywhere in the UK.

We also run an additional carers advocacy service for all carers in Liverpool, regardless of which type of condition the person they care for has.

You don’t need to be a formal or registered carer

We can help you even if you don’t view yourself as a formal carer or claim Carer’s Allowance. Find out some of the ways we support carers below.

Other resources

The Brain Charity's library

The Brain Charity’s Library has a range of resources on various disability related issues.

Search our library catalogue online here.

Support groups

Lissencephaly online forum

Support groups at The Brain Charity

Are you interested in setting up a lissencephaly support group, or do you already run one? Email to let us know.

Alternatively, you can check out our list of related support groups here.

Other charities

Tree of Hope

Child Neurology Foundation