Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


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

Johnson neuroectodermal syndrome

Disease definition

Johnson neuroectodermal syndrome is characterised by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.


Classification level: Disorder
  • Synonym(s):
    • Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome
    • Alopecia-anosmia-deafness-hypogonadism syndrome
    • Johnson-McMillin syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: 147770
  • UMLS: C0796002
  • MeSH: C535882
  • GARD: 378
  • MedDRA: -
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.