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Disease Profile

Sturge-Weber syndrome

Prevalence
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

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

SWS; Sturge Weber syndrome; Encephalotrigeminal angiomatosis;

Categories

Blood Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases;

Summary

Sturge-Weber syndrome (SWS) is a rare disorder affecting the skin and nervous system. Babies with SWS are born with a birthmark on their face known as a port-wine stain. Port-wine birthmarks are caused by enlarged blood vessels right underneath the skin. People with Sturge-Weber syndrome also have clusters of abnormal blood vessels between the layers of tissue that cover the brain and spine known as leptomeningeal angiomas. They may also have increased pressure in the eyes known as glaucoma.[1][2][3] Other symptoms of SWS may include seizures, muscle weakness, developmental and intellectual disability. SWS is caused by a mutation in the GNAQ gene.[4] The gene mutation is not inherited, but occurs by chance in cells of the developing embryo.[1][4] SWS is diagnosed based on the symptoms. Imaging studies, such as an MRI or CT-scan, are also used to aid in the diagnosis. There is no one treatment for SWS, so management involves treating the specific symptoms that are present. This may include anti-seizure medications, medications and/or surgery for glaucoma, and low-dose aspirin to reduce the pressure in the eyes and brain. The port-wine birthmark may be treated with various types of laser treatments. The long-term outlook for people with SWS is dependent on the severity of symptoms and varies from person to person.

Symptoms

Babies with Sturge-Weber syndrome (SWS) are born with a facial birthmark known as a port-wine stain.[2][3] The color can range from dark red to light pink and it is usually found on one side of the face.[3] In addition, people with SWS have abnormal growth of blood vessels within the tissue that covers the brain and spinal cord (leptomeningeal angioma). These angiomas can lead to decreased blood flow to the brain, which in turn can cause strokes, seizures, headaches and muscle weakness. Most children develop seizures by age 2. Increased pressure in the eyes (glaucoma) may be diagnosed at birth, during childhood or adulthood. Some people with SWS have developmental and intellectual impairment. The symptoms and severity of SWS vary from person to person, and typically get worse over time.[3][1]

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
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Optic atrophy
0000648
Strabismus
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
Dysphagia
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
Hydrocephalus
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

Sturge-Weber syndrome (SWS) is caused by a mistake (mutation) in the GNAQ gene.[4] This gene makes a protein that is involved in regulating the growth of blood vessels. People with SWS have a mutation in the GNAQ gene that leads to increased growth of blood vessels. This gene mutation is found in some, but not all the cells of the body. Gene mutations that are only found in some cells of the body are not inherited in families, but occur during the early development of an embryo.[3][4]

Diagnosis

Sturge-Weber syndrome (SWS) is diagnosed based on the symptoms.[5][6] The first sign that suggests that a baby might have SWS is the presence of the port-wine birthmark on the face. Not all children with port-wine birthmarks have SWS.[2] An MRI of the brain is often done to look for abnormal clusters of blood vessels.[5] Other types of imaging may be done as well. In addition, a neurology and ophthalmology examination can be helpful. A brain wave test known as an electroencephalogram (EEG ) may be done to look at the brain’s electrical activity.[5]

Treatment

There is no specific treatment for Sturge-Weber syndrome (SWS).[7] Treatment may include medications to control seizures, medications for glaucoma, and low dose aspirin for reducing the risk for stroke and for reducing the pressure inside the eyes. Seizures in SWS can be difficult to treat. Surgery may be used if anti-seizure medications don’t work. The increased pressure in the eyes may be treated with eyedrops, such as timolol and latanoprost, which decrease fluid production in the eye.[7] Surgery is an option as well.[7][6]

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.

    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

      Organizations Providing General Support

        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

          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

            1. Comi A. Sturge-Weber syndrome. Handbk of Clin Neuro. 2015; 132:157-168. https://ncbi.nlm.nih.pubmed/26564078.
            2. 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.
            3. Sturge-Weber syndrome. Genetics Home Reference (GHR). October, 2018; https://ghr.nlm.nih.gov/condition/sturge-weber-syndrome.
            4. 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.
            5. 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.
            6. 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.
            7. 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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