National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Septo-optic dysplasia spectrum



I have septo-optic dysplasia. I have not had a sense of smell (anosmia) for as long as I can remember. Could this be connected to the septo-optic dysplasia?

Yes, anosmia has been associated with this condition. Septo-optic dysplasia is a clinically diverse condition. In addition to the characteristic findings of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain malformations, many patients have associated findings. In addition to the symptoms mentioned above, individuals with septo-optic dysplasia may have anosmia, diabetes insipidus, sleep disorders, autism spectrum disorders, precocious puberty, obesity, temperature regulation issues, sensorineural hearing loss, and birth defects affecting the heart, hands, and feet.[1] 
Last updated: 1/25/2017

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GARD Information Specialist

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  1. Dattani M, Webb E. Septo-optic dysplasia. Orphanet. February 2010; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3157. Accessed 7/13/2012.