Orpha Number: 2771
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|
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures
Extra bones within cranial sutures
|30%-79% of people have these symptoms|
Face with broad temples and narrow chin
Triangular facial shape
|5%-29% of people have these symptoms|
|Bowing of the long bones||
Bowed long bones
Bowing of long bones
|Percent of people who have these symptoms is not available through HPO|
|Elbow flexion contracture||
Contractures of elbows
Abnormal susceptibility to fractures
Frequent broken bones
Increased bone fragility
Increased tendency to fractures
|Knee flexion contracture||0006380|
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