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|
Giant pigmented mole
|30%-79% of people have these symptoms|
Excessive hairiness over body
|5%-29% of people have these symptoms|
Too much cerebrospinal fluid in the brain
|Hypopigmented skin patches||
Patchy loss of skin color
Skin itching[ more ]
Firm lump under the skin
Growth of abnormal tissue under the skin[ more ]
|Percent of people who have these symptoms is not available through HPO|
Increased width of the forehead
Wide forehead[ more ]
|Broad nasal tip||
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose[ more ]
Symptoms present at birth
|Everted lower lip vermilion||
Drooping lower lip
Outward turned lower lip[ more ]
Increased size of cheeks
Large cheeks[ more ]
Widely spaced eyes[ more ]
|Narrow nasal ridge||
Decreased width of nasal ridge
Thin nasal ridge[ more ]
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance[ more ]
Puffiness around eye
|Prominence of the premaxilla||
Anterior position of the premaxilla
Anterior position of the primary palate bone
Prominence of the primary palate bone[ more ]
Protruding forehead[ more ]
Round facial appearance
Round facial shape[ more ]
Decreased length of nose
Shortened nose[ more ]
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include atypical mole, Becker's nevus syndrome, malignant melanoma, nevus of Ota, nevus of Ito, Spitz nevus, blue nevus, and congenital smooth muscle hamartome (see these terms).
Visit the Orphanet disease page for more information.
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.
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.