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Disease Profile
CLOVES 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.
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Age of onset
Infancy
ICD-10
Q87.3
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)
Congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal/spinal abnormalities; Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi; CLOVE syndrome;
Categories
Blood Diseases; Congenital and Genetic Diseases; Musculoskeletal Diseases;
Summary
CLOVES
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
|
---|---|---|
100% of people have these symptoms | ||
Hemihypertrophy |
Asymmetric overgrowth
|
0001528 |
30%-79% of people have these symptoms | ||
Lipoma |
Fatty lump
Noncancerous fatty lump
[ more ] |
0012032 |
5%-29% of people have these symptoms | ||
Lower limb asymmetry |
Left and right leg differ in length or width
|
0100559 |
Renal hypoplasia/aplasia |
Absent/small kidney
Absent/underdeveloped kidney
[ more ] |
0008678 |
0002650 | ||
Spinal dysraphism | 0010301 | |
Tethered cord | 0002144 | |
Percent of people who have these symptoms is not available through HPO | ||
Capillary malformation | 0025104 | |
Cranial hyperostosis | 0004437 | |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
Macrodactyly |
Finger overgrowth
|
0004099 |
Overgrowth |
General overgrowth
|
0001548 |
Sandal gap |
Gap between 1st and 2nd toes
Gap between first and second toe
Increased space between first and second toes
Sandal gap between first and second toes
Wide space between 1st, 2nd toes
Wide space between first and second toes
Wide-spaced big toe
Widely spaced 1st-2nd toes
Widely spaced first and second toes
Widened gap 1st-2nd toes
Widened gap first and second toe
[ more ] |
0001852 |
Splenomegaly |
Increased spleen size
|
0001744 |
Sporadic |
No previous family history
|
0003745 |
Venous malformation | 0012721 |
Treatment
Medical treatment may include embolization and surgical removal of masses, especially those that are large, deep, or in the spinal region.[2] Sclerotherapy may be used in adults to lessen pain and reduce the size of vascular and lymphatic malformations.[2]
Orthopedic and neurosurgical checkups with possible surgical intervention are needed to reduce complications from overgrowth. Surveillance of hands, feet, and limb abnormalities is important so surgery can be done promptly to minimize limb disfigurement and loss of function. Because there is increased risk of
In general, the earlier surveillance and intervention are started, the better the outcome.[2]
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
-
CLOVES Syndrome Community
PO Box 406
West Kennebunk, ME 04094
Toll-free: 1-833-425-6837 (1-833-4CLOVES)
E-mail: [email protected]
Website: https://www.clovessyndrome.org/ -
CLOVES Syndrome Foundation
PO Box 2571
Forest, VA 24551
E-mail: [email protected]
Website: https://www.facebook.com/clovesfoundation/
Organizations Providing General Support
-
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.
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 CLOVES syndrome. Click on the link to view a sample search on this topic.
References
- CLOVES Syndrome Factsheet. CLOVES Syndrome Community. August 2011; https://www.clovessyndrome.org/sites/default/files/CSC_onepager.pdf.
- Anderson S, Brooks SS. An Extremely Rare Disorder of Somatic Mosaicism: CLOVES Syndrome. Adv Neonatal Care. October 2016; 16(5):347-359.
- Martinez-Lopez A, Blasco-Morente G, Perez-Lopez I, Herrera-Garcia JD, Luque-Valenzuela M, Sanchez-Cano D, Lopez-Gutierrez JC, Ruiz-Villaverde R, Tercedor-Sanchez J. CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS). Clin Genet. July 2016; [epub ahead of print]:
- Congenital Lipomatous Overgrowth, Vascular Malformation, and Epidermal Nevi. OMIM. 8/2013; https://www.omim.org/entry/612918.
- Frequently Asked Questions -Compiled from doctors, families, and people with CLOVES. CLOVES Syndrome Community. February 2017; https://www.clovessyndrome.org/content/faqs.
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