The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Bicuspid aortic valve||Occasional
(present in 5%-29% of cases)
|Abnormality of the middle ear ossicles||-|
|Abnormality of the rib cage||-|
|Abnormality of the skin||-|
|Arnold-Chiari type I malformation||-|
|Biconcave vertebral bodies||-|
|Conductive hearing impairment||-|
|Downslanted palpebral fissures||-|
|Patent ductus arteriosus||-|
|Posteriorly rotated ears||-|
|Sclerosis of skull base||-|
|Short nasal bridge||-|
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.
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.
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
Is this hereditary? My daughter was diagnosed at age 4 with empty sella and I'd like to know if having this for life will affect her later. See answer
What is empty sella syndrome? What are the unusual facial features associated with the syndrome? See answer