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|
|Aplasia/Hypoplasia of the eyebrow||
Absence of eyebrow
Lack of eyebrow
|Delayed eruption of teeth||
Delayed teeth eruption
Delayed tooth eruption
|Depressed nasal ridge||
Recessed nasal ridge
|Everted lower lip vermilion||
Drooping lower lip
|Everted upper lip vermilion||
Outward turned upper lip
Decreased ability to sweat
Decreased width of tooth
|Sparse body hair||0002231|
|30%-79% of people have these symptoms|
|5%-29% of people have these symptoms|
|Short distal phalanx of finger||0009882|
Type 1 diabetes
Type I diabetes
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of oral mucosa||
Abnormality of lining of mouth
Failure of development of eyebrows
Lack of sweating
|Aplasia/Hypoplastia of the eccrine sweat glands||0007592|
Cone shaped tooth
Inability to produce voice sounds
Intolerance to heat and fevers
Failure of development of between one and six teeth
|Hypohidrotic ectodermal dysplasia||0007607|
|Hypoplasia of the maxilla||
Decreased size of maxilla
Decreased size of upper jaw
|Hypoplastic-absent sebaceous glands||0007411|
Dark circles around the eyes
Dark circles under the eyes
Darkening around the eyes
Pigmentation around the eyes
Wrinkles around the eyes
|Prominent supraorbital ridges||
Decreased height of chin
Short lower third of face
Decreased length of nose
|Sparse and thin eyebrow||
Thin, sparse eyebrows
|Thick vermilion border||
Increased volume of lip
|Underdeveloped nasal alae||0000430|
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.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.