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|
Mental retardation, nonspecific
Mental-retardation[ more ]
|Multicystic kidney dysplasia||0000003|
Having too much body fat
|Postaxial hand polydactyly||
Extra little finger
Extra pinkie finger
Extra pinky finger[ more ]
|30%-79% of people have these symptoms|
Decreased activity of gonads
|Hypoplasia of penis||
|Hypoplasia of the ovary||
Involuntary, rapid, rhythmic eye movements
Decreased body height
Small stature[ more ]
|5%-29% of people have these symptoms|
Undescended testis[ more ]
|Downslanted palpebral fissures||
Downward slanting of the opening between the eyelids
Excessive hairiness over body
Hearing defect[ more ]
|Low-set, posteriorly rotated ears||0000368|
|Medial flaring of the eyebrow||0010747|
|Neurological speech impairment||
Speech impediment[ more ]
|Prominent nasal bridge||
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge[ more ]
Decreased length of neck
|Skeletal muscle atrophy||
Muscle wasting[ more ]
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.
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. Submit a new question
Can men with Bardet-Biedl syndrome father children? See answer
My question is about a student with Bardet-Biedel syndrome who has behavior problems. Is this common? What should we do if the behavior problems continue? See answer
My mother is almost blind. Her diagnosis is Bardet-Biedl syndrome. She has no other symptoms besides being almost blind. Is there any cure or treatment for Bardet-Biedl syndrome anywhere in the world? Thank you very much. See answer
What about siblings of people with Bardet-Biedl syndrome? See answer