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 | Learn More: HPO ID |
---|---|---|
80%-99% of people have these symptoms | ||
Breast carcinoma |
Breast cancer
|
0003002 |
Colorectal polyposis | 0200063 | |
Conjunctival hamartoma | 0100780 | |
Generalized hyperkeratosis | 0005595 | |
Goiter |
Enlarged thyroid gland in neck
|
0000853 |
Macule |
Flat, discolored area of skin
|
0012733 |
Palmoplantar keratoderma |
Thickening of palms and soles
|
0000982 |
Papilloma | 0012740 | |
Papule | 0200034 | |
30%-79% of people have these symptoms | ||
Abnormality of the penis | 0000036 | |
Adenoma sebaceum | 0009720 | |
0001251 | ||
Cavernous hemangioma |
Collection of dilated blood vessels that forms mass
|
0001048 |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
Furrowed tongue |
Grooved tongue
|
0000221 |
Global |
0001263 | |
Hamartomatous polyposis | 0004390 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 |
Lipoma |
Fatty lump
Noncancerous fatty lump
[ more ]
|
0012032 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ]
|
0000158 |
Melanocytic nevus |
Beauty mark
|
0000995 |
Meningioma | 0002858 | |
Mucosal telangiectasiae | 0100579 | |
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ]
|
0001482 |
5%-29% of people have these symptoms | ||
Abnormal cerebellum morphology |
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly
[ more ]
|
0001317 |
0000717 | ||
Bone cyst |
Bone cysts
|
0012062 |
Short fingers or toes
|
0001156 | |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Cellular |
0005374 | |
Endometrial carcinoma | 0012114 | |
Enlarged polycystic ovaries |
Enlarged ovaries with cysts
|
0008675 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
Follicular thyroid carcinoma | 0006731 | |
Enlarged male breast
|
0000771 | |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Hypopigmented skin patches |
Patchy loss of skin color
|
0001053 |
Increased intracranial pressure |
Rise in pressure inside skull
|
0002516 |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Melanoma | 0002861 | |
Multiple cafe-au-lait spots | 0007565 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
Pectus excavatum |
Funnel chest
|
0000767 |
Renal |
Cancer starting in small tubes in kidneys
|
0005584 |
0002650 | ||
0001250 | ||
Decreased body height
Small stature
[ more ]
|
0004322 | |
1%-4% of people have these symptoms | ||
Decreased circulating |
0004313 | |
Lymphopenia |
Decreased blood lymphocyte number
Low lymphocyte number
[ more ]
|
0001888 |
Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ]
|
0002719 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the vasculature |
Abnormality of blood vessels
Vascular abnormalities
[ more ]
|
0002597 |
Acrokeratosis | 0200016 | |
Adult onset |
Symptoms begin in adulthood
|
0003581 |
Angioid streaks of the fundus | 0001102 | |
0000006 | ||
Carcinoma | 0030731 | |
Colonic diverticula | 0002253 | |
Dysplastic gangliocytoma of the cerebellum | 0500009 | |
Fibroadenoma of the breast | 0010619 | |
Hemimegalencephaly | 0007206 | |
Hydrocele |
0000034 | |
Hyperthyroidism |
Overactive thyroid
|
0000836 |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ]
|
0000327 |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
|
0001256 |
Intention tremor | 0002080 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Narrow mouth |
Small mouth
|
0000160 |
Ovarian carcinoma | 0025318 | |
Ovarian cyst | 0000138 | |
Palmoplantar hyperkeratosis |
Thickening of the outer layer of the skin of the palms and soles
|
0000972 |
Progressive macrocephaly |
Progressively abnormally enlarging cranium
Progressively abnormally enlarging skull
[ more ]
|
0004481 |
Skin tags | 0010609 | |
Subcutaneous lipoma | 0001031 | |
Thyroid adenoma | 0000854 | |
Thyroiditis |
Thyroid gland inflammation
|
0100646 |
Transitional cell carcinoma of the bladder | 0006740 | |
Varicocele | 0012871 |
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.
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