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|
Enlarged thyroid gland in neck
Flat, discolored area of skin
Thickening of palms and soles
|30%-79% of people have these symptoms|
|Abnormality of the penis||0000036|
Collection of dilated blood vessels that forms mass
Abnormality of cognition
Mental impairment[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
Noncancerous fatty lump[ more ]
Increased size of skull
Large head circumference[ more ]
Abnormally large tongue
Increased size of tongue
Large tongue[ more ]
Firm lump under the skin
Growth of abnormal tissue under the skin[ more ]
|5%-29% of people have these symptoms|
|Abnormal cerebellum morphology||
Abnormality of the cerebellum
Cerebellar anomaly[ more ]
Short fingers or toes
Clouding of the lens of the eye
Cloudy lens[ more ]
|Enlarged polycystic ovaries||
Enlarged ovaries with cysts
|Failure to thrive||
Weight faltering[ more ]
|Follicular thyroid carcinoma||0006731|
Enlarged male breast
Hearing defect[ more ]
Increased palatal height[ more ]
|Hypopigmented skin patches||
Patchy loss of skin color
|Increased intracranial pressure||
Rise in pressure inside skull
Round back[ more ]
|Multiple cafe-au-lait spots||0007565|
Nearsightedness[ more ]
Cancer starting in small tubes in kidneys
Decreased body height
Small stature[ more ]
|1%-4% of people have these symptoms|
Decreased blood lymphocyte number
Low lymphocyte number[ more ]
Frequent, severe infections
Increased frequency of infection
Predisposition to infections
Susceptibility to infection[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the vasculature||
Abnormality of blood vessels
Vascular abnormalities[ more ]
Symptoms begin in adulthood
|Angioid streaks of the fundus||0001102|
|Dysplastic gangliocytoma of the cerebellum||0500009|
|Fibroadenoma of the breast||0010619|
|Hypoplasia of the maxilla||
Decreased size of maxilla
Decreased size of upper jaw
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion[ more ]
|Intellectual disability, mild||
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation[ more ]
Little lower jaw
Small lower jaw[ more ]
Thickening of the outer layer of the skin of the palms and soles
Progressively abnormally enlarging cranium
Progressively abnormally enlarging skull[ more ]
Thyroid gland inflammation
|Transitional cell carcinoma of the bladder||0006740|
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, juvenile-polyposis syndrome, Peutz-Jeghers syndrome, Birt-Hogg-Dubé syndrome, Gorlin syndrome and neurofibromatosis type 1 (see these terms).
Visit the Orphanet disease page for more information.
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.
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.