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|
|Fused cervical vertebrae||
Decreased length of neck
|5%-29% of people have these symptoms|
Asymmetry of face
Unsymmetrical face[ more ]
Partially dislocated lens
|Low posterior hairline||
Low hairline at back of neck
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the outer ear||
Abnormality of the external ear
External ear malformations
Outer ear abnormality[ more ]
Hearing defect[ more ]
|Preauricular skin tag||0000384|
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.
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. Submit a new question
When I bend over and straighten up my spine feels like its ripping open. Is this part of the disorder? See answer
I have Wildervanck syndrome. I wonder if I will able to have children, a boy or a girl, or just a girl. Is it true that it will affect a baby boy? See answer