What is it?
Congenital anosmia is the total inability to smell from birth. People born with this are often totally unaware until after they start school when they begin to interact independently of their families. School exposes children to others who may make comments about food at lunchtimes or breaking wind.
Some people might also believe they were born without a sense of smell but it is acquired at an age before they have any smell memories. Studies suggest that approximately 1 in 10,000 people are affected by congenital anosmia.
This includes people affected by isolated congenital anosmia (no additional symptoms) and those with congenital anosmia caused by a specific genetic disorder (such as Kallman Syndrome or congenital insensitivity to pain).
Kallmann Syndrome is a rare genetic hormonal disorder that is estimated to affect between 1 in 10,000 and 1 in 50,000 people. It is thought to be between two and three times more common in men than women. People with Kallmann syndrome have a hormonal deficiency that prevents the individual from starting or fully completing puberty. Kallmann syndrome is also accompanied by a lack of sense of smell, known as anosmia. Kallmann syndrome is a form of congenital hypogonadotropic hypogonadism (CHH). It can also be described as isolated GnRH deficiency.
CHH can occur with a normal sense of smell, it is only when the sense of smell is affected that the term Kallmann syndrome is used. Approximately 50% of cases of CHH are classed as Kallmann syndrome. You can find out more about this by clicking here.
Congenital insensitivity to pain is a very rare condition that inhibits the ability to perceive physical pain. It is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain.
Hence many people with congenital insensitivity to pain also have a complete loss of the sense of smell because the same channels that transmit messages of pain from the pain site to the brain can affect the channels in the olfactory sensory neurons that transmit messages of smell signals to the brain.
The diagnosis of isolated congenital anosmia (anosmia not associated with any other symptoms and present since birth) will require investigations by a specialist ENT consultant. A diagnosis is made by ruling out all known conditions that may cause an absence of the sense of smell. When an affected person has no recollection of ever being able to smell, the following tests may be requested to support a diagnosis of congenital anosmia:
- A thorough physical examination and medical history to look for other conditions that may interfere with sense of smell
- Smell tests, particularly those that determine the smallest amount of odor that someone can detect – this might be using Sniffin’ Sticks or the UPSIT tests
- Brain Imaging (such as CT scan) to look for malformations in the portion of the brain that processes smell
- Nasal endoscopy to look for abnormalities of the nasal cavity which may interfere with sense of smell
- Olfactory nerve testing to evaluate disruptions in the pathway that carries information from the nose to the brain
Organisations/Websites/Social Media networks supporting congenital anosmia
The Rare Connect Organisation is a European organisation that links together patient groups for rare conditions and allows patients to contact each other and access information.
The National Organisation for Rare Disorders is a US based organisation that focuses on patient information for rare disorders.
The Rare Disease UK group is a UK based organisation for patients with rare disorders and provides information and patient support.
Sarah Page is a Fifth Sense member who along with Fifth Sense Founder Duncan Boak, discussed their own respective experiences of congenital and acquired anosmia. An extract of their conversation was featured on the website of the AHRC-funded Rethinking the Senses project, under the title Lives without a Sense of Smell
Four of our Ambassadors, Chessie Horwood, Charlie Atkins, Dia Kline and Yazmin Salazar, have congenital anosmia, You can find out more about them on our Ambassadors page.
Social Networking Links
- Visit the Congenital Anosmia group on Facebook.
- www.instagram.com/smell_you_never/ on Instagram and www.tiktok.com/@smellyounever Hosted by Fifth Sense Ambassador Charlie Atkins
- www.girlwhocantsmell.com – Hosted by Fifth Sense Ambassador Yazmin Salazar
- www.ezjolife.com – Hosted by Fifth Sense Ambassador Dia Kline
Dia Kline | Congenital Anosmic Taste Test | Surströmming
Congenital vs. Acquired Anosmia