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||
|30%-79% of people have these symptoms|
|5%-29% of people have these symptoms|
Small adrenal glands
Nasal tip, upturned
Upturned nasal tip
|Cleft upper lip||
Abnormal kidney location
Abnormally small tongue
Born with teeth
Teeth present at birth
|Patent ductus arteriosus||0001643|
|Short 4th metacarpal||
Shortened 4th long bone of hand
|1%-4% of people have these symptoms|
|Atresia of the external auditory canal||
Absent ear canal
Abnormally small eyeball
|Midline facial capillary hemangioma||0007601|
|Posteriorly rotated ears||0000358|
Y-shaped long bone of hand
|Percent of people who have these symptoms is not available through HPO|
|Abnormal lung lobation||0002101|
|Decreased circulating cortisol level||0008163|
|Decreased testicular size||
|Distal shortening of limbs||
Short outer part of limbs
Dislocation of hip
|Hypoplasia of the epiglottis||0005349|
|Intrauterine growth retardation||0001511|
Central polydactyly of feet
|Mesoaxial hand polydactyly||0006159|
|Postaxial foot polydactyly||0001830|
|Postaxial hand polydactyly||
Extra little finger
Extra pinkie finger
Extra pinky finger
Early onset of puberty
|Preductal coarctation of the aorta||0005151|
|Radial head subluxation||0003048|
Decreased length of nose
|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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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.
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.
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