A rare inherited disorder in which there are involuntary movements and breathing problems in infancy.
Dr Orlena Kerek last medically reviewed this article in February 2009
Joubert syndrome
On this page
- What is Joubert syndrome?
- Symptoms
- Causes and risk factors
- Treatment and recovery
- Advice and support
Page options
What is Joubert syndrome?
Joubert syndrome (also known as cerebellar vermis agenesis or cerebelloparenchymal disorder IV) is a rare inherited disorder of the brain.
An area at the back of the brain which is important for balance and co-ordination, called the cerebellum normally has two interconnected halves or hemispheres. In Joubert syndrome the connection between the two halves, known as the cerebellar vermis, fails to develop properly. As a result, one of the main features of Joubert syndrome is poorly controlled or unsteady movement, known as ataxia.
The severity of the condition varies from child to child, depending on the extent of the abnormalities of the brain. Some children are only mildly affected while others (even within the same family) have severe disabilities.
Symptoms
Joubert syndrome presents in infancy with an abnormal breathing pattern. An affected baby may pant or breath rapidly for a while (this is known as episodic tachypnoea) and then stop breathing (this is called apnoea).
Other features characteristic of the syndrome include:
- decreased muscle tone, especially in infancy ('floppy baby')
- abnormal, jerky eye movements
- abnormal development of the retina in the eye, or the iris (coloboma), which can interfere with vision
- physical deformities, for example, extra fingers and toes, cleft lip or palate, abnormalities of the tongue
- cysts in the kidneys
- seizures
- delayed motor and intellectual development
- learning difficulties
Causes and risk factors
Joubert syndrome is a genetic abnormality inherited in an autosomal recessive fashion. This means that if both parents are carriers, there is a 1 in 4 chance that each child will have the disease.
Treatment and recovery
Joubert syndrome cannot be cured, but treatment is very important to help with symptoms such as breathing problems and to support the child's development. This may include physical therapies, speech therapy and special schooling.
Advice and support
- Contact a Family
- Helpline: 0808 808 3555
- Website: www.cafamily.org.uk
Disclaimer
All content within BBC Health is provided for general information only, and should not be treated as a substitute for the medical advice of your own doctor or any other health care professional. The BBC is not responsible or liable for any diagnosis made by a user based on the content of the BBC Health website. The BBC is not liable for the contents of any external internet sites listed, nor does it endorse any commercial product or service mentioned or advised on any of the sites. See our Links Policy for more information. Always consult your own GP if you're in any way concerned about your health.
See also
Around the BBC
Elsewhere on the web
bbc.co.uk navigation
BBC links
BBC © 2012 The BBC is not responsible for the content of external sites. Read more.
This page is best viewed in an up-to-date web browser with style sheets (CSS) enabled. While you will be able to view the content of this page in your current browser, you will not be able to get the full visual experience. Please consider upgrading your browser software or enabling style sheets (CSS) if you are able to do so.
~RS~p~RS~(none)~RS~a~RS~(none)~RS~u~RS~/health/physical_health/conditions/joubert1.shtml~RS~r~RS~(none)~RS~q~RS~~RS~z~RS~11~RS~){kind=small}