Orpha Number: 957
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|
Wide/broad thumb[ more ]
|Short distal phalanx of finger||
Short outermost finger bone
|Synostosis of carpal bones||
Fusion of wrist bones
Fused ankle bones
|30%-79% of people have these symptoms|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation[ more ]
|5%-29% of people have these symptoms|
|Camptodactyly of finger||0100490|
|High, narrow palate||
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormal vertebral morphology||0003468|
|Abnormality of the thorax||
Abnormality of the chest
|Bifid distal phalanx of the thumb||
Notched outermost bone of the thumb
|Radial deviation of the 2nd finger||0009467|
Small thumbs[ more ]
|Spina bifida occulta at L5||0004601|
|Spina bifida occulta at S1||0004614|
Webbed toes[ more ]
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.
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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