Sturge-Weber syndrome

Common Name(s)

Sturge-Weber syndrome

Sturge-Weber syndrome is a rare disorder that is present at birth. Affected individuals have a large port-wine stain birthmark on their face, which is caused by blood vessel abnormalities. People with Sturge-Weber syndrome also develop blood vessel abnormalities in the brain called leptomeningeal angiomas. Other features of this syndrome include glaucoma, seizures, muscle weakness, paralysis, developmental delay, and intellectual disability. Sturge-Weber syndrome is caused by a mutation in the GNAQ gene. The gene mutation is not inherited, but occurs by chance in cells of the developing embryo.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sturge-Weber syndrome" for support, advocacy or research.

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

Last Updated: 12 Oct 2013

View Details
Logo
Hemispherectomy Foundation

To Encourage and Support impacted families by connecting them with other families who have had a hemispherectomy or similar surgery To Work together with medical professionals to fund research into the cause of the diseases that lead to intractable epilepsy, hemispherectomy, and the surgery itself To Raise Money for camp fees, scholarships for trade schools and higher education as well as provide financial relief for struggling families

Last Updated: 19 Feb 2013

View Details
Sturge-Weber Foundation

To empower individuals with SWS, KT and PWS and their families, to support and refer those affected by SWS, KT and PWS, to act as a clearinghouse of information on SWS, KT and PWS, to educate the general public, the medical profession, and government agencies by disseminating information about SWS, KT and PWS, and to facilitate further research on SWS, KT and PWS.

Last Updated: 15 Nov 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sturge-Weber syndrome" for support, advocacy or research.

Logo
CNS Foundation

CNS Foundation's Mission is Three-fold: - Expedite scientific research to find treatments and cures for the more than 14 million children living with some form of neurological disorder - Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology - Educate the public, and public officials, on the critical importance of funding pediatric neurological disorder research

http://www.cnsfoundation.org

Last Updated: 12 Oct 2013

View Details
Logo
Hemispherectomy Foundation

To Encourage and Support impacted families by connecting them with other families who have had a hemispherectomy or similar surgery To Work together with medical professionals to fund research into the cause of the diseases that lead to intractable epilepsy, hemispherectomy, and the surgery itself To Raise Money for camp fees, scholarships for trade schools and higher education as well as provide financial relief for struggling families

http://hemifoundation.intuitwebsites.com/welcome.html

Last Updated: 19 Feb 2013

View Details
Sturge-Weber Foundation

To empower individuals with SWS, KT and PWS and their families, to support and refer those affected by SWS, KT and PWS, to act as a clearinghouse of information on SWS, KT and PWS, to educate the general public, the medical profession, and government agencies by disseminating information about SWS, KT and PWS, and to facilitate further research on SWS, KT and PWS.

http://www.sturge-weber.org

Last Updated: 15 Nov 2012

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Sturge-Weber syndrome" returned 77 free, full-text research articles on human participants. First 3 results:

Klippel Trenaunay syndrome in association with Sturge Weber syndrome about one case.
 

Author(s): Lamia Sfaihi, Khaoula Aissa, Hela Fourati, Fatma Kamoun, Zeineb Mnif, Thouraya Kamoun, Mongia Hachicha

Journal: Tunis Med. 2014 Feb;92(2):173-4.

 

Last Updated: 18 Jun 2014

Go To URL
[A case report of glaucoma after topiramate treatment of epilepsy secondary to Sturge-Weber syndrome].
 

Author(s): Nuo Yang, Bo Zhang, Yun-Peng Hao, Yan-Feng Zhang, Yin-Bo Chen

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2014 Mar;16(3):315-6.

 

Last Updated: 25 Mar 2014

Go To URL
Focal venous hypertension as a pathophysiologic mechanism for tissue hypertrophy, port-wine stains, the Sturge-Weber syndrome, and related disorders: proof of concept with novel hypothesis for underlying etiological cause (an American Ophthalmological Society thesis).
 

Author(s): Cameron F Parsa

Journal: Trans Am Ophthalmol Soc. 2013 Sep;111():180-215.

 

To provide an in-depth re-examination of assumed causes of tissue hypertrophy, port-wine stains, and the Sturge-Weber, Cobb, Klippel-Trénaunay, and related syndromes to support an alternative unifying pathophysiologic mechanism of venous dysplasia producing focal venous hypertension ...

Last Updated: 3 Jan 2014

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Sturge-Weber syndrome" returned 2 free, full-text review articles on human participants. First 3 results:

Updates and future horizons on the understanding, diagnosis, and treatment of Sturge-Weber syndrome brain involvement.
 

Author(s): Warren Lo, Douglas A Marchuk, Karen L Ball, Csaba Juhász, Lori C Jordan, Joshua B Ewen, Anne Comi,

Journal: Dev Med Child Neurol. 2012 Mar;54(3):214-23.

 

To review recent developments in the understanding, diagnosis, and treatment of Sturge-Weber syndrome (SWS).

Last Updated: 13 Feb 2012

Go To URL
Sturge-Weber syndrome: a case report and review of literatures.
 

Author(s): Jing Zhou, Nan-yun Li, Xiao-jun Zhou, Jian-dong Wang, Heng-hui Ma, Ru-song Zhang

Journal: Chin. Med. J.. 2010 Jan;123(1):117-21.

 

Last Updated: 8 Feb 2010

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome
 

Status: Recruiting

Condition Summary: Sturge-Weber Syndrome

 

Last Updated: 8 Sep 2014

Go to URL
Adjunctive Everolimus (RAD 001) Therapy for Epilepsy in Children With Sturge-Weber Syndrome (SWS)
 

Status: Recruiting

Condition Summary: Sturge Weber Syndrome

 

Last Updated: 23 Apr 2014

Go to URL
Treatment of Port-wine Mark in Sturge-Weber Syndrome Using Topical Timolol
 

Status: Recruiting

Condition Summary: Sturge Weber Syndrome; Port Wine Mark

 

Last Updated: 13 Jun 2013

Go to URL