Isolated congenital anosmia
ORPHA:88620· ICD-10 Q07.8
Definition
A rare otorhinolaryngologic disease characterized by total or partial anosmia at birth. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, X-linked recessive
- Age of onset
- Infancy, Neonatal