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||
|5%-29% of people have these symptoms|
Clouding of the lens of the eye
Cloudy lens[ more ]
Hearing defect[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormal cardiac septum morphology||0001671|
Short fingers or toes
|Chronic lung disease||0006528|
|Coarse facial features||
Coarse facial appearance
Symptoms present at birth
Undescended testis[ more ]
|Downturned corners of mouth||
Downturned corners of the mouth
Downturned mouth[ more ]
Acid reflux disease
Heartburn[ more ]
Widely spaced eyes[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
Softening of voice box tissue
Increased length of eyelashes
Unusually long eyelashes[ more ]
Having too much body fat
|Patent ductus arteriosus||0001643|
Eyeballs bulging out
Protruding eyes[ more ]
Round facial appearance
Round facial shape[ more ]
Decreased length of nose
Shortened nose[ more ]
Decreased body height
Small stature[ more ]
Thick eyebrows[ more ]
Increased hair density
Narrowing of windpipe
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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
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.