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Disease Profile
Parkes 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.
0
Age of onset
Infancy
ICD-10
Q87.2
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)
PKWS
Categories
Blood Diseases; Congenital and Genetic Diseases; Musculoskeletal Diseases;
Summary
Parkes Weber
Symptoms
- Birthmarks caused by capillary malformations on the skin; they increase blood flow near the surface of the skin and usually look like large, flat, pink stains on the skin, and because of their color are sometimes called "port-wine stains."
- Hypertrophy (excessive growth) of the bone and soft
tissue of the affected limb (which may lead to a difference in size between the affected and non-affected limb). - Multiple arteriovenous fistulas (AVFs) due to abnormal connections between arteries and veins. These AVFs can be associated with life-threatening complications including abnormal bleeding and heart failure.
Some vascular abnormalities seen in Parkes Weber syndrome are similar to those that occur in a condition called capillary malformation-arteriovenous malformation syndrome (CM-AVM). CM-AVM and some cases of Parkes Weber syndrome have the same genetic cause.[3]
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
|
---|---|---|
30%-79% of people have these symptoms | ||
Bounding pulse | 0032555 | |
Capillary malformation | 0025104 | |
Erythematous plaque | 0025474 | |
Hemihypertrophy of lower limb |
Overgrowth of one leg
|
0100553 |
High-output congestive heart failure | 0001722 | |
Muscle hypertrophy of the lower extremities | 0008968 | |
Peripheral arteriovenous fistula | 0100784 | |
Prominent superficial blood vessels |
Prominent superficial vasculature
|
0007394 |
Varicose veins | 0002619 | |
Vascular dilatation |
Wider than typical opening or gap
|
0002617 |
Vascular tortuosity |
Twisted blood vessels
|
0004948 |
Venous malformation | 0012721 | |
5%-29% of people have these symptoms | ||
Abnormal B-type natriuretic |
0031138 | |
Abnormal lymphatic vessel morphology | 0100766 | |
Abnormality of the femoral metaphysis | 0006489 | |
Back pain | 0003418 | |
Cerebral arteriovenous malformation | 0002408 | |
Chest pain | 0100749 | |
Conus terminalis arteriovenous malformation | 0031939 | |
Disseminated intravascular coagulation | 0005521 | |
Distal sensory impairment |
Decreased sensation in extremities
|
0002936 |
Dural ectasia | 0100775 | |
Headache |
Headaches
|
0002315 |
Hypertrophy of the upper limb |
Increased size of upper limb
|
0010484 |
Lower limb muscle weakness |
Lower extremity weakness
Lower limb weakness
Muscle weakness in lower limbs
[ more ] |
0007340 |
Lower limb pain |
Leg pain
|
0012514 |
Myelopathy | 0002196 | |
Neck pain | 0030833 | |
Nephrotic syndrome | 0000100 | |
Scaling skin |
flaking skin
peeling skin
scaly skin
[ more ] |
0040189 |
Skin ulcer |
Open skin sore
|
0200042 |
Spinal arteriovenous malformation | 0002390 | |
Subarachnoid hemorrhage | 0002138 | |
Urinary retention | 0000016 | |
1%-4% of people have these symptoms | ||
Hemangiomatosis | 0007461 | |
Paraplegia |
Leg paralysis
|
0010550 |
Percent of people who have these symptoms is not available through HPO | ||
Arteriovenous fistula | 0004947 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
Supportive care may include compression garments (tight-fitting pieces of clothing on the affected limb to reduce pain and swelling); these may also protect the limb from bumps and scrapes, which can cause bleeding and are also recommended in cases of lymphedema. Heel inserts may be used if the legs are different lengths, which can aid in walking normally. Various pain medications and
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
-
Klippel-Trenaunay Support Group (K-T Support Group)
1471 Greystone Lane
Milford, OH 45150
Telephone: +1-513-722-7724
E-mail: [email protected]
Website: https://k-t.org/
Contact form: https://k-t.org/about-us/contact -
Society for Vascular Surgery
633 N. St. Clair
24th Floor
Chicago, IL 60611
Toll-free: 800-258-7188
Telephone: 312-334-2300
Fax: 312-334-2320
E-mail: [email protected]
Website: https://www.vascularweb.org/index.html
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Parkes Weber syndrome. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 Parkes Weber syndrome. Click on the link to view a sample search on this topic.
References
- Parkes Weber syndrome. Children's Hospital Boston. 2011; https://www.childrenshospital.org/conditions-and-treatments/conditions/parkes-weber-syndrome/overview.
- Bayrak-Toydemir P & Stevenson D. RASA1-Related Disorders. GeneReviews. 2016; https://www.ncbi.nlm.nih.gov/books/NBK52764/.
- Parkes Weber syndrome. Genetics Home Reference. August 2011; https://ghr.nlm.nih.gov/condition/parkes-weber-syndrome.
- Parkes Weber syndrome. OMIM. 2018; https://www.ncbi.nlm.nih.gov/omim/608355#ClinicalFeatures-608355.
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