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||
|80%-99% of people have these symptoms|
Increased width of the forehead
|Coarse facial features||
Coarse facial appearance
|Cortical diaphyseal thickening of the upper limbs||0003859|
|Deep palmar crease||
Deep palm line
|Deep plantar creases||0001869|
Increased size of cheeks
Elongation of face
Increased height of face
Increased length of face
Degenerative joint disease
Increased body height
|Thick lower lip vermilion||0000179|
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose
|30%-79% of people have these symptoms|
|Abnormal toenail morphology||
Abnormality of the toenail
Abnormality of the toenails
|Abnormality of the fingernails||
Broad lower face
Intermittent migraine headaches
Fullness of eyelids
Swelling of eyelids
Pins and needles feeling
|Spinal canal stenosis||
Narrow spinal canal
|Widely spaced teeth||
|5%-29% of people have these symptoms|
Painful or difficult urination
Spontaneous milk flow from breast
Difficulty getting a full erection
Difficulty getting an erection
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Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
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