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Genetic and Rare Diseases Information Center (GARD)

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Empty sella syndrome


Other Names for this Disease
  • Empty sella turcica
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Your Question

What is empty sella syndrome? What are the unusual facial features associated with the syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is empty sella syndrome?

Empty sella syndrome is a condition in which the pituitary gland shrinks or becomes flattened.[1] There are two types of this syndrome, primary and secondary.The primary form occurs when a hole in the membrane covering the pituitary gland allows fluid in, which presses on the pituitary.[1] The secondary form occurs when the pituitary gland is damaged by a tumor, radiation therapy, or surgery.[1] Empty sella syndrome can also be seen in a condition called pseudotumor cerebri.  Often Empty sella syndrome causes no symptoms, however some people experience symptoms of hypopituitarism due to a partial or complete loss of pituitary function.[1]
Last updated: 1/28/2010

Are unusual facial features associated with the syndrome?

Empty sella syndrome does not cause unusual facial features. This condition often isn't evident until imaging studies of the pituitary gland shows that the sella turcica, a bony structure at the base of the brain that surrounds and protects the pituitary gland, is empty.[2] 

However, there are a number of rare syndromes where empty sella syndrome may occur in combination with numerous other symptoms. For some of these syndromes differences in facial features is characteristic, for example autosomal recessive Robinow syndrome,[3] orofaciodigital syndrome 11,[4] and Donnai Barrow syndrome.[5]

If you feel that you or someone you know may have one of these syndromes, you may find it helpful to consult with a genetic professional. Genetic professionals are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.

The following online resources can also help you find a genetics professional in your community:

  * GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
http://www.geneclinics.org/

  * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
http://www.nsgc.org/resourcelink.asp

  * Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
http://www.kumc.edu/gec/prof/genecntr.html

  * The American Society of Human Genetics (ASHG) is a professional organization of research and clinical geneticists. The ASHG maintains a database of these geneticists, some of which live outside of the United States. Some of the geneticists listed are involved in research only and do not offer medical care. 
http://genetics.faseb.org/cgi-bin/ASHG-Search

Last updated: 3/11/2010

References