Rare Oncology News
Advertisement
Disease Profile
Sneddon 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.
Unknown
Age of onset
Adult
ICD-10
I77.8
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)
Sneddon's syndrome; Livedo reticularis and cerebrovascular accidents; Cerebro-vascular lesions and livedo reticularis;
Categories
Blood Diseases; Congenital and Genetic Diseases; Nervous System Diseases;
Summary
Sneddon
Symptoms
The type of livedo reticularis that occurs is called livedo racemosa, a generalized and persistent form of livedo. It may affect the arms and legs, buttocks, trunk, face, hands, and feet.[3] Some affected individuals also have signs of Raynaud’s phenomenon and/or widespread, mottled-purple discoloration on the body.[3]
Neurological symptoms may include transient ischemic attacks (mini-strokes) and strokes; headache; and dizziness.[1][2] Reduced blood flow to the brain may cause reduced intellectual ability, memory loss, psychiatric disturbances, personality changes, and/or other neurological symptoms.[1][3] Concentration, attention, memory, visual perception and visuospatial construction are the most commonly described cognitive impairments.
Other signs and symptoms may include
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 | ||
Arterial stenosis |
Narrowing of an artery
|
0100545 |
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] |
0000708 |
Cutis marmorata | 0000965 | |
Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] |
0002354 |
Migraine |
Intermittent migraine headaches
Migraine headache
Migraine headaches
[ more ] |
0002076 |
Thromboembolic stroke | 0001727 | |
Vertigo |
Dizzy spell
|
0002321 |
30%-79% of people have these symptoms | ||
Amaurosis fugax | 0100576 | |
Dementia |
Dementia, progressive
Progressive dementia
[ more ] |
0000726 |
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
Hemiparesis |
Weakness of one side of body
|
0001269 |
Hypertension | 0000822 | |
Motor delay | 0001270 | |
Muscle weakness |
Muscular weakness
|
0001324 |
Visual field defect |
Partial loss of field of vision
|
0001123 |
5%-29% of people have these symptoms | ||
Antiphospholipid |
0003613 | |
Aphasia |
Difficulty finding words
Losing words
Loss of words
[ more ] |
0002381 |
Chorea | 0002072 | |
Intracranial hemorrhage |
Bleeding within the skull
|
0002170 |
Nephropathy | 0000112 | |
Seizure | 0001250 | |
Tremor | 0001337 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Difficulty articulating speech
|
0001260 | |
Facial palsy |
Bell's palsy
|
0010628 |
Headache |
Headaches
|
0002315 |
Hemiplegia |
Paralysis on one side of body
|
0002301 |
Mental deterioration |
Cognitive decline
Cognitive decline, progressive
Intellectual deterioration
Progressive cognitive decline
[ more ] |
0001268 |
Progressive |
Worsens with time
|
0003676 |
Sporadic |
No previous family history
|
0003745 |
Stroke | 0001297 |
Cause
Genetic factors are thought to play a role in the development of Sneddon syndrome, as
The signs and symptoms of the condition are caused by excessive growth of the inner surface of blood vessels (endothelium), leading to occlusion of the arteries with impaired blood flow and clotting.[2]
Diagnosis
Anyone suspected to have Sneddon syndrome may undergo:[3][2]
- blood tests (see below)
- a thorough cardiovascular (heart) evaluation;
- brain MRI which may reveal white matter changes, infarcts, microbleeds or atrophy;
- cerebral angiography (abnormal in up to 75% of patients); and
- skin biopsy, which may reveal occlusion of arterioles by proliferation of the inner lining (characteristic of Sneddon syndrome)
Blood tests may screen for:[3][2]
- lupus anticoagulant
- immunoglobulin IgG and possibly IgM anti-cardiolipinantibodies (types of antiphospholipid
antibodies , which may be positive in about 60% of cases) - anti-nuclear (ANA) and anti-double-stranded DNA autoantibodies
thrombocytopenia and leukopenia (low whitecell count)- VDRL
- cryoglobulins
- circulating immune complexes
- antithrombin-III
- protein C or protein S
Treatment
Angiotensin-converting enzyme (ACE) inhibitors have been suggested to reduce endothelial proliferation (growth of the inside lining of the vessels), and prostaglandin to improve blood flow and gas exchange in small vessels (microvascular perfusion).[2] Abstaining from smoking and abstaining from using
While the use of immunosuppressive therapy appears generally ineffective, there are data indicating that rituximab may be effective in aPL-positive patients.[2]
Additional research exploring the underlying causes of Sneddon syndrome may identify treatment options based on the cause in each affected person.[3]
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
|
---|
Differential diagnoses include reversible cerebral vasoconstriction syndrome, MELAS syndrome, cerebrovascular dementia (see these terms), migraine, the autoimmune diseases with which SS can be associated, and cerebral angiitis.
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
-
National Stroke Association
9707 E Easter Lane
Suite B
Centennial, CO 80112
Telephone: 800-787-6537
Fax: 303-649-1328
E-mail: [email protected]
Website: https://www.stroke.org/
Organizations Providing General Support
-
American Stroke Association
National Center
7272 Greenville Avenue
Dallas, TX 75231
Telephone: 888-478-7653
Website: https://www.strokeassociation.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
- 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.
In-Depth Information
- 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 Sneddon syndrome. Click on the link to view a sample search on this topic.
References
- Berlit P. Sneddon Syndrome. National Organization for Rare Disorders (NORD). 2016; https://rarediseases.org/rare-diseases/sneddon-syndrome/.
- Berlit P. Sneddon syndrome. Orphanet. March, 2015; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=820.
- Wu S, Xu Z, Liang H. Sneddon’s syndrome: a comprehensive review of the literature. Orphanet J Rare Dis. 2014; 9:215:https://ojrd.biomedcentral.com/articles/10.1186/s13023-014-0215-4.
- Kniffin CL. Sneddon syndrome. OMIM. August 4, 2014; https://www.omim.org/entry/182410.
- Bayrakli F, Erkek E, Kurtuncu M, Ozgen S. Intraventricular hemorrhage as an unusual presenting form of Sneddon syndrome. World Neurosurg. Apr 2010; 73(4):411-3. https://www.ncbi.nlm.nih.gov/pubmed/20849802.
Rare Oncology News