Orpha Number: 3210
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|
|Clinodactyly of the 5th finger||0004209|
Prominent eye folds[ more ]
Widely spaced eyes[ more ]
Increased size of skull
Large head circumference[ more ]
Decreased breadth of face
Decreased width of face[ more ]
Flat head syndrome
Flattening of skull
Rhomboid shaped skull[ more ]
|Prominent metopic ridge||0005487|
Increased body height
|30%-79% of people have these symptoms|
|Depressed nasal ridge||
Recessed nasal ridge[ more ]
Squint eyes[ more ]
Increased breadth of nose
Increased nasal breadth
Increased nasal width
Increased width of nose[ more ]
|5%-29% of people have these symptoms|
|Camptodactyly of finger||0100490|
Mental retardation, nonspecific
Mental-retardation[ more ]
|Short 4th metacarpal||
Shortened 4th long bone of hand
|Percent of people who have these symptoms is not available through HPO|
Webbed fingers or toes
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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