Orpha Number: 2036
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 | ||
Abnormality of the antihelix | 0009738 | |
Abnormality of the scalp | 0001965 | |
Abnormality of the skin | 0000951 | |
Aplasia/Hypoplasia of the nipples |
Absent/small nipples
Absent/underdeveloped nipples
[ more ]
|
0006709 |
Breast aplasia |
Absent breast
|
0100783 |
Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
Small earlobe |
Small earlobes
|
0000385 |
Sparse hair | 0008070 | |
Underdeveloped antitragus | 0011251 | |
Underdeveloped tragus | 0011272 | |
30%-79% of people have these symptoms | ||
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ]
|
0001231 |
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
0000822 | ||
Palpebral edema |
Fullness of eyelids
Puffy eyelids
Puffy lids
Swelling of eyelids
[ more ]
|
0100540 |
Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ]
|
0000010 |
Telecanthus |
Corners of eye widely separated
|
0000506 |
Type I |
Type 1 diabetes
Type I diabetes
[ more ]
|
0100651 |
5%-29% of people have these symptoms | ||
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
|
0000463 |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Developmental cataract |
Clouding of the lens of the eye at birth
|
0000519 |
0005580 | ||
Epicanthus |
Eye folds
Prominent eye folds
[ more ]
|
0000286 |
Eyelid coloboma |
Cleft eyelid
Notched eyelid
[ more ]
|
0000625 |
Fine hair |
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ]
|
0002213 |
Hypohidrosis |
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ]
|
0000966 |
Hypotelorism |
Abnormally close eyes
Closely spaced eyes
[ more ]
|
0000601 |
Iris coloboma |
Cat eye
|
0000612 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
Pyelonephritis | 0012330 | |
Renal agenesis |
Absent kidney
Missing kidney
[ more ]
|
0000104 |
Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ]
|
0000089 |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ]
|
0000083 |
Short columella | 0002000 | |
Ureteral duplication |
Double ureter
|
0000073 |
1%-4% of people have these symptoms | ||
Narrow palpebral fissure |
Small opening between the eyelids
|
0045025 |
Percent of people who have these symptoms is not available through HPO | ||
2-3 toe |
Webbed 2nd and 3rd toes
|
0004691 |
3-4 finger cutaneous syndactyly | 0011939 | |
Abnormal hair morphology |
Abnormality of the hair
Hair abnormality
[ more ]
|
0001595 |
Abnormality of the endocrine system | 0000818 | |
Abnormality of the nail | 0001597 | |
Abnormality of the thorax |
Abnormality of the chest
|
0000765 |
Agenesis of permanent teeth |
Failure of development of permanent teeth
Missing teeth
[ more ]
|
0006349 |
Aplasia cutis congenita |
Absence of part of skin at birth
|
0001057 |
0000006 | ||
Cupped ear |
Cup-shaped ears
Simple, cup-shaped ears
[ more ]
|
0000378 |
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 |
Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
Nail dysplasia |
Atypical nail growth
|
0002164 |
Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
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.
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.
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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