Congenital anosmia

Apr 21, 2026 - 16:38
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Congenital anosmia

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← Previous revision Revision as of 11:07, 21 April 2026
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* [[Physical examination]]: A thorough ear, nose, and throat (ENT) examination is performed to check for any structural abnormalities or conditions that could affect the sense of smell.
* [[Physical examination]]: A thorough ear, nose, and throat (ENT) examination is performed to check for any structural abnormalities or conditions that could affect the sense of smell.
* Smell tests: Standardized olfactory tests are used to assess the patient's ability to detect and identify odors. Common tests include the Sniffin' Sticks test{{cite journal |last1=Hummel |first1=T. |last2=Sekinger |first2=B. |last3=Wolf |first3=S.R. |last4=Pauli |first4=E. |last5=Kobal |first5=G. |title='Sniffin' Sticks': Olfactory Performance Assessed by the Combined Testing of Odour Identification, Odor Discrimination and Olfactory Threshold |journal=Chemical Senses |date=1997 |volume=22 |issue=1 |pages=39–52 |doi=10.1093/chemse/22.1.39|pmid=9056084 }} and the [[University of Pennsylvania Smell Identification Test]] (UPSIT). These tests help determine the severity of smell loss and can differentiate between partial (hyposmia) and complete (anosmia) loss of smell.{{cite journal |last1=Hummel |first1=T. |last2=Rissom |first2=K. |last3=Reden |first3=J. |last4=Hähner |first4=A. |last5=Weidenbecher |first5=M. |last6=Huttenbrink |first6=K.B. |title=Diagnosis of isolated congenital anosmia using simultaneous functional magnetic resonance imaging and olfactory event-related potentials: Our experience in six patients |journal=Clinical Otolaryngology |date=2020-05-11 |volume=45 |issue=3 |pages=337–343 |doi=10.1111/coa.13533 |pmid=33725416}}
* Smell tests: Standardized olfactory tests are used to assess the patient's ability to detect and identify odors. Common tests include the Sniffin' Sticks test{{cite journal |last1=Hummel |first1=T. |last2=Sekinger |first2=B. |last3=Wolf |first3=S.R. |last4=Pauli |first4=E. |last5=Kobal |first5=G. |title='Sniffin' Sticks': Olfactory Performance Assessed by the Combined Testing of Odour Identification, Odor Discrimination and Olfactory Threshold |journal=Chemical Senses |date=1997 |volume=22 |issue=1 |pages=39–52 |doi=10.1093/chemse/22.1.39|pmid=9056084 }} and the [[University of Pennsylvania Smell Identification Test]] (UPSIT). These tests help determine the severity of smell loss and can differentiate between partial (hyposmia) and complete (anosmia) loss of smell.{{cite journal |last1=Hummel |first1=T. |last2=Rissom |first2=K. |last3=Reden |first3=J. |last4=Hähner |first4=A. |last5=Weidenbecher |first5=M. |last6=Huttenbrink |first6=K.B. |title=Diagnosis of isolated congenital anosmia using simultaneous functional magnetic resonance imaging and olfactory event-related potentials: Our experience in six patients |journal=Clinical Otolaryngology |date=2020-05-11 |volume=45 |issue=3 |pages=337–343 |doi=10.1111/coa.13533 |pmid=33725416}}
* Nasal endoscopy: This procedure allows the physician to examine the [[nasal cavity]] and look for any abnormalities that might be causing smell loss.
* Nasal endoscopy: This procedure allows the [[physician]] to examine the [[nasal cavity]] and look for any abnormalities that might be causing smell loss.
* Imaging studies: Brain imaging techniques such as MRI or CT scans are used to evaluate the olfactory bulbs, tracts, and related brain structures. In congenital anosmia, these scans may reveal aplasia (absence) or hypoplasia (underdevelopment) of the olfactory bulbs or tracts.{{cite journal |last1=Hummel |first1=T. |last2=Rissom |first2=K. |last3=Reden |first3=J. |last4=Hähner |first4=A. |last5=Weidenbecher |first5=M. |last6=Huttenbrink |first6=K.B. |title=A case of congenital anosmia |journal=Clinical Otolaryngology |date=2016-11-29 |volume=41 |issue=6 |pages=703–707 |doi=10.1111/coa.12657 |pmid=27895246}}
* Imaging studies: Brain imaging techniques such as MRI or CT scans are used to evaluate the olfactory bulbs, tracts, and related brain structures. In congenital anosmia, these scans may reveal aplasia (absence) or hypoplasia (underdevelopment) of the olfactory bulbs or tracts.{{cite journal |last1=Hummel |first1=T. |last2=Rissom |first2=K. |last3=Reden |first3=J. |last4=Hähner |first4=A. |last5=Weidenbecher |first5=M. |last6=Huttenbrink |first6=K.B. |title=A case of congenital anosmia |journal=Clinical Otolaryngology |date=2016-11-29 |volume=41 |issue=6 |pages=703–707 |doi=10.1111/coa.12657 |pmid=27895246}}
* Genetic testing: In some cases, especially when congenital anosmia is suspected to be part of a syndrome (e.g., Kallmann syndrome), genetic testing may be recommended to identify any associated genetic mutations.{{cite journal |last1=Balasubramanian |first1=R. |last2=Dwyer |first2=A. |last3=Min |first3=L. |last4=Quinton |first4=R. |last5=Hall |first5=J. |last6=Hughes |first6=I. |last7=Owen |first7=C. |last8=Mehta |first8=A. |last9=Kirk |first9=J. |title=Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome |journal=Journal of Clinical Endocrinology & Metabolism |date=2020-02-20 |volume=105 |issue=3 |pages=99–114 |doi=10.1210/clinem/dgz230 |pmid=32074614|pmc=7174047 }}
* Genetic testing: In some cases, especially when congenital anosmia is suspected to be part of a syndrome (e.g., Kallmann syndrome), [[genetic testing]] may be recommended to identify any associated genetic mutations.{{cite journal |last1=Balasubramanian |first1=R. |last2=Dwyer |first2=A. |last3=Min |first3=L. |last4=Quinton |first4=R. |last5=Hall |first5=J. |last6=Hughes |first6=I. |last7=Owen |first7=C. |last8=Mehta |first8=A. |last9=Kirk |first9=J. |title=Congenital Hypogonadotropic Hypogonadism with Anosmia and Gorlin Features Caused by a PTCH1 Mutation Reveals a New Candidate Gene for Kallmann Syndrome |journal=Journal of Clinical Endocrinology & Metabolism |date=2020-02-20 |volume=105 |issue=3 |pages=99–114 |doi=10.1210/clinem/dgz230 |pmid=32074614|pmc=7174047 }}
* Exclusion of other causes: The diagnosis of isolated congenital anosmia is often made by ruling out other potential causes of smell loss, including head trauma, infections, and neurodegenerative diseases.
* Exclusion of other causes: The diagnosis of isolated congenital anosmia is often made by ruling out other potential causes of smell loss, including head trauma, infections, and neurodegenerative diseases.


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The [[NYU Langone Health]] Anosmia Center specializes in diagnosing and treating anosmia, including congenital anosmia. The center's team of otolaryngologists conducts evaluations and research to improve understanding and management of smell disorders.{{cite web |title=Anosmia Center |url=https://nyulangone.org/care-services/anosmia-center |website=NYU Langone Health |access-date=2024-07-06 |archive-date=2023-10-18 |archive-url=https://web.archive.org/web/20231018145239/https://nyulangone.org/care-services/anosmia-center |url-status=live }}
The [[NYU Langone Health]] Anosmia Center specializes in diagnosing and treating anosmia, including congenital anosmia. The center's team of otolaryngologists conducts evaluations and research to improve understanding and management of smell disorders.{{cite web |title=Anosmia Center |url=https://nyulangone.org/care-services/anosmia-center |website=NYU Langone Health |access-date=2024-07-06 |archive-date=2023-10-18 |archive-url=https://web.archive.org/web/20231018145239/https://nyulangone.org/care-services/anosmia-center |url-status=live }}


Located in Gainesville, FL, the University of Florida Center for Smell and Taste coordinates and promotes research on taste and smell. Researchers are exploring gene therapy approaches to restore the sense of smell in individuals with congenital anosmia.{{cite web |title=Pain and Sensory Physiology - McKnight Brain Institute |url=https://mbi.ufl.edu/research/research-areas/pain-and-sensory-physiology/ |website=McKnight Brain Institute |access-date=2024-07-06}}
Located in Gainesville, FL, the [[University of Florida]] Center for Smell and Taste coordinates and promotes research on taste and smell. Researchers are exploring gene therapy approaches to restore the sense of smell in individuals with congenital anosmia.{{cite web |title=Pain and Sensory Physiology - McKnight Brain Institute |url=https://mbi.ufl.edu/research/research-areas/pain-and-sensory-physiology/ |website=McKnight Brain Institute |access-date=2024-07-06}}


Fifth Sense is a UK-based charity dedicated to supporting people with smell and taste disorders. They collaborate with researchers and institutions to advance the understanding of congenital anosmia. They provide resources, support, and advocacy for individuals affected by the condition.
Fifth Sense is a UK-based charity dedicated to supporting people with smell and taste disorders. They collaborate with researchers and institutions to advance the understanding of congenital anosmia. They provide resources, support, and advocacy for individuals affected by the condition.
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