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

Sturge-Weber Syndrome.
 

Author(s): Shivang Desai, Charles Glasier

Journal: N. Engl. J. Med.. 2017 Aug;377(9):e11.

 

Last Updated: 31 Dec 1969

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A rare case of overlapping Sturge-Weber syndrome and Klippel-Trenaunay syndrome associated with bilateral refractory childhood glaucoma.
 

Author(s): Manju R Pillai, P P Hasini, Ashish Ahuja, S R Krishnadas

Journal: Indian J Ophthalmol. 2017 Jul;65(7):623-625.

 

A 6-year-old girl presented with blurred vision and was found to have elevated intraocular pressure (IOP) and glaucomatous optic disc damage in both eyes. She also displayed capillary malformations on the face (port-wine stain), upper back and all four limbs, angiomatosis in the brain ...

Last Updated: 31 Dec 1969

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Predictors of Cognitive Functions in Children With Sturge-Weber Syndrome: A Longitudinal Study.
 

Author(s): Edit Bosnyák, Michael E Behen, William C Guy, Eishi Asano, Harry T Chugani, Csaba Juhász

Journal: Pediatr. Neurol.. 2016 Aug;61():38-45.

 

Sturge-Weber syndrome is often accompanied by seizures and neurocognitive deterioration, although previous studies have suggested that early functional brain reorganization may diminish the cognitive sequelae in some children with unilateral Sturge-Weber syndrome. The "rules" governing ...

Last Updated: 31 Dec 1969

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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 6 free, full-text review articles on human participants. First 3 results:

Visual outcome in Sturge-Weber syndrome: a systematic review and Dutch multicentre cohort.
 

Author(s): Yvonne Koenraads, Michelle B van Egmond-Ebbeling, Joke H de Boer, Saskia M Imhof, Kees P J Braun, Giorgio L Porro,

Journal: Acta Ophthalmol. 2016 Nov;94(7):638-645.

 

Visual functions in Sturge-Weber syndrome (SWS) may be impaired by glaucoma, diffuse choroidal haemangioma (DCH) or leptomeningeal angioma. The aim of this study was to gain better insight in the visual deficits of SWS patients. A systematic literature search using PubMed and Embase ...

Last Updated: 31 Dec 1969

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Current Therapeutic Options in Sturge-Weber Syndrome.
 

Author(s): Anne Comi

Journal: Semin Pediatr Neurol. 2015 Dec;22(4):295-301.

 

Sturge-Weber syndrome is a vascular malformation syndrome consisting of a facial port-wine birthmark associated with malformed leptomeningeal blood vessels and a choroid "angioma" of the eye. It is a rare neurocutaneous disorder that occurs sporadically, is not inherited, and is caused ...

Last Updated: 31 Dec 1969

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Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?
 

Author(s): Solmaz Abdolrahimzadeh, Vittorio Scavella, Lorenzo Felli, Filippo Cruciani, Maria Teresa Contestabile, Santi Maria Recupero

Journal: Biomed Res Int. 2015 ;2015():786519.

 

The phakomatoses have been traditionally defined as a group of hereditary diseases with variable expressivity characterized by multisystem tumors with possible malignant transformation. The Sturge-Weber syndrome, Klippel-Trenaunay syndrome, and the phakomatosis pigmentovascularis ...

Last Updated: 31 Dec 1969

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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: 11 Sep 2017

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Trial of Sirolimus for Cognitive Impairment in Sturge-Weber Syndrome
 

Status: Recruiting

Condition Summary: Sturge-Weber Syndrome

 

Last Updated: 11 Sep 2017

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

Status: Recruiting

Condition Summary: Sturge Weber Syndrome; Port-wine Mark

 

Last Updated: 12 May 2017

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