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.

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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

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

Last Updated: 22 Apr 2015

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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

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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

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Pediatric Brain Foundation

Pediatric Brain Foundation's Mission is Three-fold: 1. Expedite scientific research to find treatments and cures for ALL of the more than 14 million children, in the U.S. alone, living with some form of neurological disorder 2. Provide families and health care professionals with up-to-date information and resources on the latest discoveries in pediatric neurology 3. Educate the public and public officials on the critical importance of funding pediatric neurological research

http://www.pediatricbrainfoundation.org

Last Updated: 22 Apr 2015

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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

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General Support Organizations

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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 86 free, full-text research articles on human participants. First 3 results:

[Sturge Weber syndrome associated with glaucoma: report of a case].
 

Author(s): Fatima Zohra El Meriague, Rajae Daoudi

Journal:

 

Last Updated: 9 Jan 2015

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Sturge-weber syndrome: a case report with persistent headache.
 

Author(s): Ece Balkuv, Nihal Isik, Ilknur Aydin Canturk, Nejat Isik, Recep Basaran

Journal:

 

Sturge-Weber syndrome (SWS) is a rare congenital disorder characterized by a facial vascular nevus associated with an ipsilateral leptomeningeal angioma. Headache is a rare component of SWS and when it occurs it usually occurs as a migraine-like headache. We aimed to present a SWS ...

Last Updated: 17 Nov 2014

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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

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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

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Presentation, diagnosis, pathophysiology, and treatment of the neurological features of Sturge-Weber syndrome.
 

Author(s): Anne M Comi

Journal: Neurologist. 2011 Jul;17(4):179-84.

 

Sturge-Weber syndrome (SWS) is a neurovascular disorder with a capillary malformation of the face (port-wine birthmark), a capillary-venous malformation in the eye, and a capillary-venous malformation in the brain (leptomeningeal angioma). Although SWS is a congenital disorder usually ...

Last Updated: 29 Jun 2011

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Cannabidiol Expanded Access Study in Medically Refractory Sturge-Weber Syndrome
 

Status: Recruiting

Condition Summary: Sturge-Weber Syndrome

 

Last Updated: 5 Jan 2015

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Innovative Approaches to Gauge Progression of Sturge-Weber Syndrome
 

Status: Recruiting

Condition Summary: Sturge-Weber Syndrome

 

Last Updated: 8 Sep 2014

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

Status: Recruiting

Condition Summary: Sturge Weber Syndrome

 

Last Updated: 23 Mar 2015

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