Orpha Number: 3138
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|
Narrowing of anal opening
|Anterior pituitary hypoplasia||
Underdeveloped pituitary gland
|Aplasia of the ulna||0003982|
|Axillary apocrine gland hypoplasia||0007397|
Delayed pubertal development
Delayed pubertal growth
Pubertal delay[ more ]
|Ectopic posterior pituitary||0011755|
Failure of development of between one and six teeth
|Hypoplasia of the radius||0002984|
|Hypoplasia of the ulna||0003022|
Small shoulder blade
Small penis[ more ]
Extra little finger
Extra pinkie finger
Extra pinky finger[ more ]
|Short 4th toe||
Short fourth toe
|Short 5th toe||
Short little toe
Short pinkie toe
Short pinky toe[ more ]
Short long bone of upper arm
Short upper arms[ more ]
|Sparse axillary hair||0002215|
|Sparse lateral eyebrow||0005338|
|Ventricular septal defect||0001629|
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.
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.
Genetic Analysis of Limb Malformation Disorders
University of Washington SOM
Department of Pediatrics
Division of Genetics & Developmental Medicine
1959 NE Pacific St. HSB RR349 B
Seattle, WA 98195-6320 USA
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
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.