Orpha Number: 1450
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 palate morphology||
Abnormality of the palate
Abnormality of the roof of the mouth[ more ]
|Abnormality of the ureter||0000069|
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
|Deviation of finger||
Atypical position of finger
Finger pointing in a different direction than usual[ more ]
Prominent eye folds[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
|Low posterior hairline||
Low hairline at back of neck
High levels of amniotic fluid
Decreased length of nose
Shortened nose[ more ]
Receding forehead[ more ]
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.
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