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 fibula morphology||
Abnormality of the calf bone
|Abnormality of tibia morphology||
Abnormality of the shankbone
Abnormality of the shinbone[ more ]
|30%-79% of people have these symptoms|
|Abnormality of the cardiovascular system||
Premature delivery of affected infants
Preterm delivery[ more ]
Decreased body height
Small stature[ more ]
Claw hand deformities
Split-hand[ more ]
Fused ankle bones
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the hand||
Hand deformities[ more ]
Absent calf bone
|Shortening of the tibia||
Shortening of the shankbone
Shortening of the shinbone[ more ]
Webbed fingers or toes
Bowed shinbone[ 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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