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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Congenital anosmia


Other Names for this Disease
  • ANIC
  • Isolated congenital anosmia
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Cause


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What causes congenital anosmia?

Congenital anosmia may be associated with specific genetic disorders (such as Kallmann syndrome and Klinefelter syndrome) or may occur as an isolated abnormality. It has been reported that in affected individuals, MRI may show that the olfactory bulb and olfactory tract are aplastic (undeveloped), hypoplastic (underdeveloped), or normal.[1]

Although the specific cause of congenital anosmia remains largely unknown, it is likely related to abnormal development of the olfactory system during early fetal development.[2] Most likely there is more than one cause. The presence of reports of Kallmann syndrome and isolated congenital anosmia in different members of the same family (including among identical twins) suggests that there may be one causative gene with incomplete penetrance, or multifactorial inheritance (interaction between genes and environment that predisposes an individual to the condition).[2] A 2004 study involving several individuals with isolated congenital anosmia reported that it appeared to be inherited as an autosomal dominant trait and that it may be due to mutations somewhere on chromosome 18, although no specific causative genes were identified.[3]
Last updated: 4/9/2012

References
  1. Huart C, Meusel T, Gerber J, Duprez T, Rombaux P, Hummel T. The depth of the olfactory sulcus is an indicator of congenital anosmia. AJNR Am J Neuroradiol. November-December 2011; 32(10):1911-1914.
  2. Assouline S, Shevell MI, Zatorre RJ, Jones-Gotman M, Schloss MD, Oudjhane K. Children who can't smell the coffee: isolated congenital anosmia. J Child Neurol. April 1998; 13(4):168-172.
  3. Marla J. F. O'Neill. ANOSMIA, ISOLATED CONGENITAL; ANIC. OMIM. June 2, 2006; http://omim.org/entry/107200. Accessed 4/9/2012.