Orpha Number: 63442
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 epiphysis morphology||
Abnormal shape of end part of bone
|Short 1st metacarpal||
Shortened 1st long bone of hand
|Short middle phalanx of the 5th finger||
Short middle bone of the little finger
Short middle bone of the pinkie finger
Short middle bone of the pinky finger[ more ]
|30%-79% of people have these symptoms|
|Delayed eruption of teeth||
Delayed teeth eruption
Delayed tooth eruption
Late eruption of teeth
Late tooth eruption[ more ]
Failure of development of between one and six teeth
Decreased body height
Small stature[ more ]
|5%-29% of people have these symptoms|
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Delayed ossification of carpal bones||0001216|
|Hyperextensibility of the finger joints||
Finger joint hyperextensibility
Hyperextensible finger[ more ]
|Pseudoepiphyses of the metacarpals||0009193|
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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