Congenital Anosmia

Common Name(s)

Congenital Anosmia

Congenital anosmia is a very rare condition in which individuals, beginning at birth, have a lifelong inability to smell. Although it can occur alone, it may also be a symptom of another condition such as Kallman syndrome. Congential anosmia in individuals with no other symptoms (isolated congenital anosmia) is thought to be due to errors in the development of the system that enables us to smell (the olfactory system) and may be related to mutations in a gene on chromosome 18. Isolated congenital anosmia is thought to be inherited in an autosomal dominant pattern.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Anosmia" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital Anosmia" returned 6 free, full-text research articles on human participants. First 3 results:

PROKR2 and PROK2 mutations cause isolated congenital anosmia without gonadotropic deficiency.
 

Author(s): Antoine Moya-Plana, Carine Villanueva, Ollivier Laccourreye, Pierre Bonfils, Nicolas de Roux

Journal:

 

Isolated congenital anosmia (ICA) is a rare phenotype defined as absent recall of any olfactory sensations since birth and the absence of any disease known to cause anosmia. Although most cases of ICA are sporadic, reports of familial cases suggest a genetic cause. ICA due to olfactory ...

Last Updated: 11 Dec 2012

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The depth of the olfactory sulcus is an indicator of congenital anosmia.
 

Author(s): C Huart, T Meusel, J Gerber, T Duprez, P Rombaux, T Hummel

Journal: AJNR Am J Neuroradiol. ;32(10):1911-4.

 

In congenital anosmia, the OB and OT can be aplastic or hypoplastic. In clinical routine, these are sometimes difficult to assess. We thus wanted to investigate morphologic differences of the OS in patients with IA since birth or early childhood in comparison with controls, to investigate ...

Last Updated: 15 Nov 2011

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[Radiological findings in congenital anosmia: a case report].
 

Author(s): María Sánchez-Pérez, Manuel Recio-Rodríguez, Mar Jiménez-De la Peña, Javier Carrascoso-Arranz, Vicente Martínez-De Vega

Journal: Rev Neurol. 2011 Jul;53(2):87-90.

 

Hypoplasia of the olfactory tracts and bulbs is a rare cause of anosmia in the paediatric population. In most cases it is usually due to an acquired cause and in only a few is it associated to chromosomal disorders (Kallman's syndrome, among others).

Last Updated: 1 Jul 2011

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Reviews from the PubMed Database

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The terms "Congenital Anosmia" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders
 

Status: Recruiting

Condition Summary: Hypogonadism; Kallmann Syndrome; Puberty, Delayed; Puberty, Precocious; Hypothalamic Amenorrhea; Anosmia; GnRH Deficiency

 

Last Updated: 29 May 2014

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The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome)
 

Status: Recruiting

Condition Summary: Kallmann Syndrome; Hypogonadotropic Hypogonadism; Hypothalamic Amenorrhea; Polycystic Ovarian Syndrome; Precocious Puberty

 

Last Updated: 9 Apr 2014

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