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

Analysis of Epileptic Discharges from Implanted Subdural Electrodes in Patients with Sturge-Weber Syndrome.
 

Author(s): Yasushi Iimura, Hidenori Sugano, Madoka Nakajima, Takuma Higo, Hiroharu Suzuki, Hajime Nakanishi, Hajime Arai

Journal:

 

Almost two-thirds of patients with Sturge-Weber syndrome (SWS) have epilepsy, and half of them require surgery for it. However, it is well known that scalp electroencephalography (EEG) does not demonstrate unequivocal epileptic discharges in patients with SWS. Therefore, we analyzed ...

Last Updated: 8 Apr 2016

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Phakomatosis pigmentovascularis Type IIb, Sturge-Weber syndrome and cone shaped tongue: An unusual association.
 

Author(s): Swetalina Pradhan, Satyadarshi Patnaik, Tanmay Padhi, Bibhu Prasad Nayak

Journal: Indian J Dermatol Venereol Leprol. ;81(6):614-6.

 

Last Updated: 30 Oct 2015

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[Sturge-Weber syndrome without facial nevus: frontal leptomeningeal angiomatosis with favourable development].
 

Author(s): K L Quinones-Coneo, L Lopez-Vinas, R Buenache-Espartosa, J Garcia-Poza, K J Escajadillo-Vargas, G Lorenzo-Sanz

Journal: Rev Neurol. 2015 Sep;61(5):238-9.

 

Last Updated: 28 Aug 2015

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

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: 9 Oct 2015

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Transition into adulthood: tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis.
 

Author(s): Elizabeth A Thiele, Tiziana Granata, Sara Matricardi, Harry T Chugani

Journal: Epilepsia. 2014 Aug;55 Suppl 3():29-33.

 

Children with tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis all have complex but differing needs in the process of transition/transfer to adult care. All three may be associated with long-term normal intelligence or a varying degree of intellectual ...

Last Updated: 11 Sep 2014

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
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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: 12 Oct 2015

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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: 18 Dec 2015

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Lymphatic Anomalies Registry
 

Status: Recruiting

Condition Summary: Lymphatic Malformation; Generalized Lymphatic Anomaly (GLA); Central Conducting Lymphatic Anomaly; CLOVES Syndrome; Gorham-Stout Disease ("Disappearing Bone Disease"); Blue Rubber Bleb Nevus Syndrome; Kaposiform Lymphangiomatosis; Kaposiform Hemangioendothelioma/Tufted Angioma; Klippel-Trenaunay Syndrome; Lymphangiomatosis

 

Last Updated: 26 Jul 2016

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