Orpha Number: 79133
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|
|Abnormal facial shape||
Unusual facial appearance
Failure of development of eyelashes
|Aplasia cutis congenita||
Absence of part of skin at birth
Sunken or indented skin due to damage
|Low anterior hairline||
Low frontal hairline
Low-set frontal hairline[ more ]
Spotty increased pigmentation
Spotty decreased pigmentation[ more ]
|Vertical forehead creases||
Frontal creases of face
Vertical forehead wrinkles[ more ]
|30%-79% of people have these symptoms|
|Depressed nasal tip||
Caved in nasal tip
Depressed tip of nose
Flat nasal tip
Flat tip of nose
Flattened nasal tip
Nasal tip, depressed[ more ]
|Downturned corners of mouth||
Downturned corners of the mouth
Downturned mouth[ more ]
Small pointed chin
Witch's chin[ more ]
|Sparse lateral eyebrow||
Limited hair on end of eyebrow
|Thick upper lip vermilion||
Full upper lip
Increased volume of upper lip
Plump upper lip
Prominent upper lip
Thick upper lip[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Reduced subcutaneous adipose
Reduced fat tissue below the skin
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
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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