x

Search for a rare disease

* (*) mandatory field

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Isolated congenital anosmia

Disease definition

This syndrome is characterised by total or partial anosmia at birth. So far, 15 patients have been described. The anosmia is caused by a defect in the development of the olfactory bulbs or by replacement of the olfactory epithelium by respiratory epithelium. The mode of transmission appears to be autosomal dominant with incomplete penetrance. Isolated congenital anosmia is found in some parents of individuals with Kallman syndrome (see this term).

ORPHA:88620

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q07.8
  • OMIM: 107200
  • UMLS: C0393778
  • MeSH: -
  • GARD: 9486
  • MedDRA: -

Additional information

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.