Orpha Number: 221054
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|
|Abnormal renal morphology||
Abnormally shaped kidney
Kidney structure issue
Structural kidney abnormalities[ more ]
|Abnormality of the knee||0002815|
|Abnormality of the mouth||
|Depressed nasal ridge||
Recessed nasal ridge[ more ]
Prominent eye folds[ more ]
Enlarged liver and spleen
Widely spaced eyes[ more ]
Short limbs[ more ]
Underdeveloped ears[ more ]
|Premature closure of fontanelles||0005458|
|Short long bone||
Long bone shortening
Decreased length of neck
Decreased length of nose
Shortened nose[ more ]
Small thorax[ more ]
|30%-79% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the pinna||
Abnormally shaped ears
Simple ears[ more ]
Accumulation of fluid in the abdomen
|Cystic renal dysplasia||0000800|
|Hypoplasia of the small intestine||
Underdeveloped small intestine
Low set ears
Lowset ears[ more ]
Extra little finger
Extra pinkie finger
Extra pinky finger[ more ]
Underdeveloped lung[ more ]
|Upslanted palpebral fissure||
Upward slanting of the opening between the eyelids
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.
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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