Orpha Number: 978
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 | ||
| Dry skin | 0000958 | |
| Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
| Finger |
0006101 | |
| Fingernail dysplasia |
Abnormal fingernail development
|
0100798 |
| Freckling | 0001480 | |
| Melanocytic nevus |
Beauty mark
|
0000995 |
| Nail pits |
Nail pitting
Pitted nails
[ more ]
|
0001803 |
| Nasolacrimal duct obstruction |
Blocked tear duct
|
0000579 |
| Skin ulcer |
Open skin sore
|
0200042 |
| Split foot |
Lobster-claw foot deformity
Split-foot
[ more ]
|
0001839 |
| Thin skin | 0000963 | |
| Toe syndactyly |
Fused toes
Webbed toes
[ more ]
|
0001770 |
| Toenail dysplasia |
Abnormal toenail development
|
0100797 |
| 30%-79% of people have these symptoms | ||
| Abnormality of dental morphology |
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Dental deformity
Dental malformations
Malformed teeth
Misshapen teeth
Misshapened teeth
[ more ]
|
0006482 |
| Absent nipple |
Absent nipples
|
0002561 |
| Alopecia |
Hair loss
|
0001596 |
| Breast hypoplasia |
Underdeveloped breasts
|
0003187 |
| Hypoplastic nipples |
Small nipples
|
0002557 |
| Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
| 5%-29% of people have these symptoms | ||
| Prominent nasal bridge |
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge
[ more ]
|
0000426 |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
| Percent of people who have these symptoms is not available through HPO | ||
| Adermatoglyphia | 0007455 | |
| Alopecia of scalp |
Pathologic hair loss from scalp
Scalp hair loss
[ more ]
|
0002293 |
| 0000006 | ||
| Conjunctivitis |
Pink eye
|
0000509 |
| Cutaneous photosensitivity |
Photosensitive skin
Photosensitive skin rashes
Photosensitivity
Sensitivity to sunlight
Skin photosensitivity
Sun sensitivity
[ more ]
|
0000992 |
| Dermal atrophy |
Skin degeneration
|
0004334 |
| Ectodermal dysplasia | 0000968 | |
| Eczema | 0000964 | |
| Fair hair |
Blond hair
Fair hair color
Flaxen hair color
Light colored hair
Sandy hair color
Straw colored hair
Towhead (hair color)
[ more ]
|
0002286 |
| Hypodontia |
Failure of development of between one and six teeth
|
0000668 |
| Microdontia |
Decreased width of tooth
|
0000691 |
| Oligodontia |
Failure of development of more than six teeth
|
0000677 |
| Oral cleft |
Cleft of the mouth
|
0000202 |
| Premature loss of permanent teeth |
Early loss of adult teeth
Early loss of permanent teeth
Premature loss of adult teeth
[ more ]
|
0006357 |
| Sparse axillary hair |
Limited armpit hair
Little underarm hair
[ more ]
|
0002215 |
| Split hand |
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ]
|
0001171 |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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.
