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Disease Profile
Sturge-Weber syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Infancy
ICD-10
Q85.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
SWS; Sturge Weber syndrome; Encephalotrigeminal angiomatosis;
Categories
Blood Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases;
Summary
Sturge-Weber
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Capillary hemangioma |
Strawberry birthmark
|
0005306 |
Seizure | 0001250 | |
30%-79% of people have these symptoms | ||
Attention deficit hyperactivity disorder |
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder
[ more ] |
0007018 |
Glaucoma | 0000501 | |
Hyperreflexia |
Increased reflexes
|
0001347 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Optic atrophy | 0000648 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Stroke | 0001297 | |
5%-29% of people have these symptoms | ||
Abnormal choroid morphology | 0000610 | |
Abnormal retinal vascular morphology |
Abnormality of retina blood vessels
|
0008046 |
Arnold-Chiari malformation | 0002308 | |
Autistic behavior | 0000729 | |
Blindness | 0000618 | |
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Conjunctival telangiectasia |
Small dilated blood vessels near membrane covering front of eye and eyelids
|
0000524 |
Corneal dystrophy | 0001131 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Gingival overgrowth |
Gum enlargement
|
0000212 |
Hearing abnormality |
Abnormal hearing
|
0000364 |
Hemianopia | 0012377 | |
Heterochromia iridis |
Different colored eyes
|
0001100 |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hyperostosis |
Bone overgrowth
|
0100774 |
Iris coloboma |
Cat eye
|
0000612 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
Pulmonary embolism |
Blood clot in artery of lung
|
0002204 |
Retinal detachment |
Detached retina
|
0000541 |
Venous thrombosis |
Blood clot in vein
|
0004936 |
Visceral angiomatosis | 0100761 | |
Percent of people who have these symptoms is not available through HPO | ||
Arachnoid hemangiomatosis | 0012222 | |
Buphthalmos |
Enlarged eyeball
|
0000557 |
Choroidal hemangioma | 0007872 | |
Facial hemangioma | 0000329 | |
Sporadic |
No previous family history
|
0003745 |
Cause
Diagnosis
Treatment
Pulsed dye laser (PDL) remains the treatment of choice for the majority of children with a port-wine stain.[6] Other types of laser treatments may also be helpful.
Management Guidelines
- Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The main diagnostic concern is separating the child with an isolated facial port-wine birthmark from one with SWS brain and/or eye involvement. The diagnosis of megalencephaly-capillary malformation-polymicrogyria and Klippel-Trénaunay syndromes (see these terms) may also be raised.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Sturge-Weber Foundation
P.O. Box 418
Mt. Freedom, NJ 07970
Toll-free: 800-627-5482
Telephone: 973-895-4445
Fax: 973-895-4846
E-mail: [email protected]
Website: https://www.sturge-weber.org -
Vascular Birthmarks Foundation (VBF)
PO Box 106
Latham
NY 12110
Telephone: (877) VBF-4646
E-mail: [email protected]
Website: https://birthmark.org/
Organizations Providing General Support
-
Glaucoma UK
Woodcote House
15 Highpoint Business Village
Henwood
Ashford
Kent TN24 3DH
United Kingdom
Telephone: +44 (0)1233 64 81 70
E-mail: [email protected]
Website: https://glaucoma.uk/ -
National Organization of Vascular Anomalies (NOVA)
PO Box 38216
Greensboro, NC 27438-8216
E-mail: [email protected]
Website: https://www.novanews.org
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- MedlinePlus Genetics contains information on Sturge-Weber syndrome. This website is maintained by the National Library of Medicine.
- The National Cancer Institute provides the most current information on cancer for patients, health professionals, and the general public.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Brain Vascular Malformation Consortium has information and frequently asked questions about Sturge-Weber syndrome for patients and their families.
Learn More About Sturge-Weber Syndrome (SWS)
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Sturge-Weber syndrome. Click on the link to view a sample search on this topic.
References
- Comi A. Sturge-Weber syndrome. Handbk of Clin Neuro. 2015; 132:157-168. https://ncbi.nlm.nih.pubmed/26564078.
- NINDS Sturge-Weber Syndrome Information Page. National Institute of Neurological Disorders and Stroke. Updated 6/21/2018; https://www.ninds.nih.gov/Disorders/All-Disorders/Sturge-Weber-Syndrome-Information-Page.
- Sturge-Weber syndrome. Genetics Home Reference (GHR). October, 2018; https://ghr.nlm.nih.gov/condition/sturge-weber-syndrome.
- Shirley MD, Tang H, Gallione CJ, Baugher JD, Frelin LP, Cohen B, North PE, Marchuk DA, Comi AM, Pevsner J. Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013;368(21):1971; https://www.ncbi.nlm.nih.gov/pubmed/23656586. Accessed 10/16/2013.
- Zallmann M, Leventer RJ, Mackay MT, Ditchfield M, Bekhor PS, Su JC. Screening for Sturge-Weber syndrome: A state-of-the-art review. Pediatr Dermatol. Jan 2018; 35(10):30-42. https://www.ncbi.nlm.nih.gov/pubmed/29034507.
- De la Torre AJ, Luat AF, Juhász C, Ho ML, Argersinger DP et al. A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome. Pediatr Neurol. Jul 2018; 84:11-20. https://www.ncbi.nlm.nih.gov/pubmed/29803545.
- Comi A. Current Therapeutic Options in Sturge-Weber syndrome. Semin Pediatr Neurol. 22(4) 295-301. Dec 2015; 22(4):295-301. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4943027/.
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