Congenital anosmia

Congenital Anosmia
Other namesIsolated Congenital Anosmia
Olfactory bulbs and olfactory tracts outlined in red. These structures, which are critical for the sense of smell, are missing or underdeveloped in individuals with congenital anosmia.
SpecialtyOtorhinolaryngology
SymptomsComplete inability to perceive smell from birth[1]
ComplicationsSafety risks (e.g., inability to detect smoke or gas leaks), potential nutritional issues[2]
Usual onsetBirth[1]
DurationLifelong[1]
TypesIsolated, Syndromic (e.g., Kallmann syndrome)[3]
CausesGenetic mutations, developmental defects of the olfactory bulbs and tracts[3]
Risk factorsGenetic predisposition[3]
Diagnostic methodMedical history, physical examination, smell tests, brain imaging (MRI/CT), nasal endoscopy, olfactory nerve testing[1][4]
Differential diagnosisAcquired anosmia, other olfactory disorders[5]
PreventionNone[1]
TreatmentNo cure; management includes safety precautions and coping strategies[2][6]
MedicationNone[1]
PrognosisLifelong condition with management of associated risks[1]
FrequencyApproximately 1 in 10,000 individuals[4]

Congenital anosmia is a rare condition characterized by the complete inability to perceive smell from birth. It affects approximately 1 in 10,000 individuals and is often diagnosed later in life due to its subtle presentation and lack of associated symptoms.[7][8]

  1. ^ a b c d e f g "Congenital Anosmia". Fifth Sense. Archived from the original on 2024-05-12. Retrieved 2024-07-06.
  2. ^ a b "Anosmia (Loss of Sense of Smell)". Cleveland Clinic. Archived from the original on 2024-07-05. Retrieved 2024-07-06.
  3. ^ a b c "Isolated congenital anosmia". Orphanet. Archived from the original on 2024-07-06. Retrieved 2024-07-06.
  4. ^ a b Saw, Chia; Friesen, Noel David; Bartley, Anthony (2022-07-07). "An Extremely Rare Cause of Isolated Congenital Anosmia". Case Reports in Pediatrics. 2022 (4): 5253121. doi:10.7171/3fc1f5fe.87a00931. PMC 9283015. PMID 35837270.
  5. ^ "Loss of Smell (Anosmia)". Yale Medicine. Retrieved 2024-07-06.
  6. ^ "Can't smell anything? Discovery may give you hope". ScienceDaily. 2012-09-02. Archived from the original on 2024-07-06. Retrieved 2024-07-06.
  7. ^ Alotaibi, Naif H.; Alrashed, May; Drad, Mohammed K.; Abu-Safieh, Leen; Almobarak, Abdulaziz A.; Baz, Batoul; Farzan, Raed A.; Alsuhaibani, Mohanned S.; Al-Alsheikh, Yazeed (2022-08-05). "Isolated Congenital Anosmia: Case Report and Literature Review". Ear, Nose & Throat Journal. doi:10.1177/01455613221111496. ISSN 0145-5613. PMID 35931064.
  8. ^ Saw, Chia; Friesen, Noel David; Bartley, Anthony (2022-07-07). "An Extremely Rare Cause of Isolated Congenital Anosmia". Case Reports in Pediatrics. 2022 (4): 1–4. doi:10.7171/3fc1f5fe.87a00931. PMC 9283015. PMID 35837270.