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|
|Aplasia/Hypoplasia of the
|Broad nasal tip||
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose[ more ]
|Depressed nasal bridge||
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root[ more ]
|Downslanted palpebral fissures||
Downward slanting of the opening between the eyelids
Widely spaced eyes[ more ]
Crease in skin under the eye
Groove in skin under the eye[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
Nearsightedness[ more ]
|Posteriorly rotated ears||
Ears rotated toward back of head
Eyeballs bulging out
Protruding eyes[ more ]
High urine protein levels
Protein in urine[ more ]
|Sensorineural hearing impairment||0000407|
Decreased length of nose
Shortened nose[ more ]
|Wide anterior fontanel||
Wider-than-typical soft spot of skull
V-shaped frontal hairline[ more ]
|30%-79% of people have these symptoms|
Increased width of the forehead
Wide forehead[ more ]
Low set ears
Lowset ears[ more ]
Increased size of skull
Large head circumference[ more ]
|Progressive visual loss||
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive[ more ]
Breakdown of light-sensitive cells in back of eye
|5%-29% of people have these symptoms|
Heart shaped uterus
Heart-shaped uterus[ more ]
|Hypoplasia of the iris||
|Ventricular septal defect||
Hole in heart wall separating two lower heart chambers
|1%-4% of people have these symptoms|
Clouding of the lens of the eye
Cloudy lens[ more ]
Severe near sightedness
Severely close sighted
Severely near sighted[ more ]
|Non-acidotic proximal tubulopathy||0005574|
|Percent of people who have these symptoms is not available through HPO|
Decreased size of midface
Underdevelopment of midface[ more ]
|Partial agenesis of the corpus callosum||0001338|
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
DBS has a characteristic constellation of clinical features limiting differential diagnoses. However, some overlapping signs are found in tetrasomy 12p, Fryns, Chudley-McCullough, Acrocallosal, and Craniofrontonasal syndromes. The renal phenotype partly resembles Dent disease and Lowe syndrome. The ocular phenotype may be suggestive of Stickler syndrome.
Visit the Orphanet disease page for more information.
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.