Orpha Number: 2632
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
|Abnormality of the carpal bones||0001191|
|Abnormality of the ulna||0002997|
|Aplasia/Hypoplasia of the fibula||
Absent/small calf bone
Absent/underdeveloped calf bone[ more ]
|Bowing of the long bones||
Bowed long bones
Bowing of long bones[ more ]
Increased palatal height[ more ]
|Mesomelic/rhizomelic limb shortening||0005026|
|Severe short stature||
Short stature, severe[ more ]
|Short femoral neck||
Short neck of thighbone
|Ulnar deviation of finger||0009465|
|Percent of people who have these symptoms is not available through HPO|
|Hypoplasia of the radius||0002984|
|Hypoplasia of the ulna||0003022|
|Mesomelic short stature||0008845|
Small to absent calf bone
|Shortening of the tibia||
Shortening of the shankbone
Shortening of the shinbone[ more ]
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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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