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||
|5%-29% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
|Accelerated skeletal maturation||0005616|
Acute pancreatic inflammation
|Cystic angiomatosis of bone||0002833|
|Decreased serum leptin||0003292|
|Elevated hepatic transaminases||0002910|
|Generalized muscular appearance from birth||0003716|
Fatty infiltration of liver
Increased plasma triglycerides
Increased serum triglycerides
Enlargement of the labia
Enlargement of the vaginal lips
Disproportionately large feet
Prominent belly button
|Reduced intrathoracic adipose
Increased spleen size
Increased body height
Face with broad temples and narrow chin
Triangular facial shape
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
New Rare Disease Patient Video Series
July 18, 2016
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