Sturge-Weber syndrome (SWS) is a congenital disorder involving the brain, skin and eyes. There is a facial birth mark (port wine stain), a layer of blood vessels over the covering of the brain (venous angioma of the leptomeninges) and there may be an angioma (collections of abnormal blood vessels) involving the inner lining of the eye (choroidal angioma). The angioma usually involves one side of the brain and varies in extent. More rarely it may involve both sides of the brain. The port wine stain involves the skin around the eye, forehead or scalp. In some cases it may involve other areas of the body in addition to the typical facial distribution. In approximately thirteen per cent of cases of SWS the facial port wine stain may be absent.

Other features may include epilepsy in seventy-five to ninety per cent of cases, learning disability, hemiparesis (weakness of one side of the body) which may be evident during infancy or may occur in relation to seizures or in association with migraine-like headache, glaucoma (raised pressure in the eye) and episodic migraine-like headache.

There is much variation in the manifestation of the condition between different individuals.

Inheritance patterns
Sporadic with no evidence of familial involvement.

Prenatal diagnosis
None.

Medical text written March 2003 by Dr S Aylett, Consultant Paediatric Neurologist, Great Ormond Street Hospital, London, UK and the National Centre For Young People With Epilepsy, Surrey, UK.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

Sturge-Weber Foundation (UK)
Burleigh
348 Pinhoe Road
Exeter
EX4 8AF
Tel: 01392 464675
E-mail: support@sturgeweber.org.uk
Web: http://www.sturgeweber.org.uk

The Foundation is a national registered charity no. 1016688, established in 1990. It offers support for families. It aims to raise public awareness and promote medical research. It publishes a bi-annual newsletter and has information available, details on request. The Foundation has over 200 members with affected children and adults.

Group details last updated August 2007.