Orpha Number: 247709
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||
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the skin||0000951|
|Disproportionate tall stature||0001519|
|Elevated urinary epinephrine||0003639|
|Failure to thrive in infancy||
Faltering weight in infancy
Weight faltering in infancy
Decreased muscle tone
Low muscle tone
|High, narrow palate||
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth
|Medullary thyroid carcinoma||0002865|
Muscle tissue disease
Enlarged parathyroid glands
|Proximal femoral epiphysiolysis||
Slipped end part of innermost thighbone
|Thick lower lip vermilion||0000179|
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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