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 | ||
Abnormal form of the vertebral bodies | 0003312 | |
Abnormal subcutaneous fat |
Abnormal fat tissue distribution below the skin
|
0007552 |
Arteriovenous malformation | 0100026 | |
Asymmetry of the thorax |
Asymmetric chest
|
0001555 |
Cachexia |
Wasting syndrome
|
0004326 |
Capillary hemangioma |
Strawberry birthmark
|
0005306 |
Decreased muscle mass | 0003199 | |
Disproportionate tall stature | 0001519 | |
Epidermal nevus | 0010816 | |
Irregular hyperpigmentation | 0007400 | |
Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
Lipoma |
Fatty lump
Noncancerous fatty lump
[ more ]
|
0012032 |
Lower limb asymmetry |
Left and right leg differ in length or width
|
0100559 |
Lymphangioma | 0100764 | |
Macrodactyly |
Finger overgrowth
|
0004099 |
Melanocytic nevus |
Beauty mark
|
0000995 |
0002650 | ||
Skeletal dysplasia | 0002652 | |
Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ]
|
0001482 |
Upper limb asymmetry |
Unequal size of arms
|
0100560 |
Vascular skin abnormality | 0011276 | |
30%-79% of people have these symptoms | ||
Abnormal lung lobation | 0002101 | |
Bronchogenic cyst | 0100730 | |
Calvarial hyperostosis |
Overgrowth of skullcap
|
0004490 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ]
|
0000268 |
Finger |
0006101 | |
Generalized hyperkeratosis | 0005595 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Lymphedema |
Swelling caused by excess lymph fluid under skin
|
0001004 |
Macrotia |
Large ears
|
0000400 |
Multiple cafe-au-lait spots | 0007565 | |
Pulmonary embolism |
Blood clot in artery of lung
|
0002204 |
Round face |
Circular face
Round facial appearance
Round facial shape
[ more ]
|
0000311 |
Thrombophlebitis | 0004418 | |
Visceral angiomatosis | 0100761 | |
5%-29% of people have these symptoms | ||
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ]
|
0000682 |
Abnormality of retinal pigmentation | 0007703 | |
Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
Abnormality of the nail | 0001597 | |
Abnormality of the neck | 0000464 | |
Abnormality of the wrist |
Abnormalities of the wrists
|
0003019 |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
Arterial thrombosis |
Blood clot in artery
|
0004420 |
Buphthalmos |
Enlarged eyeball
|
0000557 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ]
|
0000670 |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Central heterochromia | 0007818 | |
Chorioretinal coloboma |
Birth defect that causes a hole in the innermost layer at the back of the eye
|
0000567 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
0001363 | ||
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ]
|
0005280 |
Diabetes insipidus | 0000873 | |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Enlarged polycystic ovaries |
Enlarged ovaries with cysts
|
0008675 |
Exostoses |
Formation of new noncancerous bone on top of existing bone
|
0100777 |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ]
|
0000324 |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Generalized hyperpigmentation | 0007440 | |
Gray matter heterotopia | 0002282 | |
Hallux valgus |
Bunion
|
0001822 |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
|
0000276 |
Long penis |
Enlarged penis
|
0000040 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Macroorchidism |
Large testis
|
0000053 |
Meningioma | 0002858 | |
Metatarsus valgus | 0010508 | |
Myofibrillar myopathy | 0003715 | |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
Narrow internal auditory canal | 0011386 | |
Lung tumor
|
0100526 | |
Neoplasm of the thymus | 0100521 | |
Ovarian neoplasm |
Ovarian tumor
|
0100615 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Drooping upper eyelid
|
0000508 | |
Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ]
|
0002719 |
Reduced number of teeth |
Decreased tooth count
|
0009804 |
Renal cyst |
Kidney cyst
|
0000107 |
Retinal hamartoma | 0009594 | |
Retinal nonattachment | 0007899 | |
0001250 | ||
Sirenomelia | 0010497 | |
Splenomegaly |
Increased spleen size
|
0001744 |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Sudden cardiac death |
Premature sudden cardiac death
|
0001645 |
Testicular neoplasm |
Testicular tumor
|
0010788 |
Thick nasal alae | 0009928 | |
Thymus hyperplasia |
Enlarged thymus
|
0010516 |
Percent of people who have these symptoms is not available through HPO | ||
Deep venous thrombosis |
Blood clot in a deep vein
|
0002625 |
Depigmentation/hyperpigmentation of skin | 0007483 | |
Epidermal acanthosis |
Thickening of upper layer of skin
|
0025092 |
Facial hyperostosis |
Enlargment of the facial bones
Excessive growth of facial bones
Excessive growth of facial skeleton
Increase in size of the facial bones
Overgrowth of facial bones
Overgrowth of facial skeleton
Overgrowth of the facial bones
[ more ]
|
0005465 |
Hemangioma |
Strawberry mark
|
0001028 |
Hemihypertrophy |
Asymmetric overgrowth
|
0001528 |
Hyperkeratosis | 0000962 | |
Hypertrophy of skin of soles |
Thick skin of soles
|
0007403 |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ]
|
0003593 |
Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
Kyphoscoliosis | 0002751 | |
Limbal dermoid | 0001140 | |
Mandibular hyperostosis | 0004472 | |
Multiple lipomas |
Multiple fatty lumps
|
0001012 |
Nevus |
Mole
|
0003764 |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ]
|
0000194 |
Progressive |
Worsens with time
|
0003676 |
0001428 | ||
Spinal canal stenosis |
Narrow spinal canal
|
0003416 |
Spinal cord compression |
Pressure on spinal cord
|
0002176 |
Sporadic |
No previous family history
|
0003745 |
Thin bony cortex | 0002753 | |
Venous malformation | 0012721 |
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 Klippel-Trenaunay-Weber syndrome, hemihypertrophy, Ollier disease, macrodactyly, Maffucci syndrome, CLOVE syndrome, neurofibromatosis type 1 and other PHTS disorders (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. Submit a new question
What causes Proteus syndrome? See answer
How can I learn about research opportunities at the National Institutes of Health (NIH) that are enrolling children with Proteus syndrome? See answer