Orpha Number: 2307
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||
|Percent of people who have these symptoms is not available through HPO|
|Carpal bone hypoplasia||
Small carpal bones
Small carpals[ more ]
Hearing defect[ more ]
|Hypoplasia of deltoid muscle||0030241|
|Hypoplasia of the radius||0002984|
Elevated white blood count
High white blood count
Increased blood leukocyte number[ more ]
|Limited elbow movement||
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion[ more ]
|Limited interphalangeal movement||
Limited movement of hinge joints
|Limited wrist movement||
Limited movement of the wrist
|Pectoralis major hypoplasia||0008953|
Fused forearm bones
|Short 1st metacarpal||
Shortened 1st long bone of hand
|Small thenar eminence||0001245|
Squint eyes[ more ]
Low platelet count
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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
Fifth International Conference on Pediatric Mechanical Circulatory Support Systems and Pediatric Cardiopulmonary Perfusion
Thursday, May 28, 2009 -
Saturday, May 30, 2009
Location: Hilton Anatole, Dallas, TX
Description: The main objective of this conference was to focus on the current problems associated with pediatric cardiac patients during and after acute or chronic cardiac support. At this conference, we brought together many distinguished physicians and scientists to define precisely the current problems and to suggest solutions with novel approaches.
Contact: Dr. Frank Evans, NHLBI301-402-2647
Co-funding Institute(s): National Heart, Lung, and Blood Institute
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