Orpha Number: 1952
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|
|Abnormality of calvarial morphology||
Abnormality of the shape of cranium
Abnormally shaped skull[ more ]
|Coronal cleft vertebrae||0003417|
Speckled calcifications in end part of bone
Abnormally close eyes
Closely spaced eyes[ more ]
|Lethal skeletal dysplasia||
Lethal dwarfism identifiable at birth
|Patent ductus arteriosus||0001643|
|Rough bone trabeculation||0100670|
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of metabolism/homeostasis||
Metabolism abnormality[ more ]
|Bowing of the long bones||
Bowed long bones
Bowing of long bones[ more ]
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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