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|
|Arthrogryposis multiplex congenita||0002804|
Stiff joints[ more ]
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
Decreased body height
Small stature[ more ]
Extra bones within cranial sutures
|30%-79% of people have these symptoms|
Round back[ more ]
Clubfoot[ more ]
Face with broad temples and narrow chin
Triangular facial shape[ more ]
|5%-29% of people have these symptoms|
|Bowing of the long bones||
Bowed long bones
Bowing of long bones[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Elbow flexion contracture||
Contractures of elbows
Elbow contractures[ more ]
Abnormal susceptibility to fractures
Frequent broken bones
Increased bone fragility
Increased tendency to fractures[ more ]
Loosejointedness[ more ]
|Knee flexion contracture||0006380|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
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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