Empty sella syndrome
- Empty sella turcica
Your QuestionWhat is empty sella syndrome? What are the unusual facial features associated with the syndrome?
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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, orofaciodigital syndrome 11, and Donnai Barrow syndrome.
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.
* 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.
* 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.
* 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.
- Empty Sella Syndrome Information Page. NINDS. November 21, 2013; http://www.ninds.nih.gov/disorders/emptysella/emptysella.htm. Accessed 6/19/2014.
- Empty sella syndrome. MedlinePlus. November 7, 2013; http://www.nlm.nih.gov/medlineplus/ency/article/000349.htm. Accessed 7/14/2014.
- Empty sella syndrome. National Institute of Neurological Disorders and Stroke. 2008; http://www.ninds.nih.gov/disorders/emptysella/emptysella.htm. Accessed 1/28/2010.
- Robinow syndrome, autosomal recessive. Online Mendelian Inheritance in Man. 2009; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=268310. Accessed 1/28/2010.
- Orofaciodigital syndrome. Online Mendelian Inheritance in Man. 2009; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=612913. Accessed 1/28/2010.
- Donnai-Barrow syndrome. Online Mendelian Inheritance in Man. 2009; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=222448. Accessed 1/28/2010.