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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.
ORPHA:2316
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: -
Summary
Epidemiology
So far, less than 30 cases have been described in the literature.
Clinical description
Other variable features include a congenital heart defect, facial asymmetry, intellectual deficit, cleft palate, choanal stenosis and an increased tendency for dental caries.
Etiology
The aetiology is unknown but the combination of developmental anomalies present in patients with this syndrome is suggestive of an embryological defect in the formation of the neuroectodermal derivatives of cephalic neural crest.
Genetic counseling
The syndrome is transmitted as an autosomal dominant trait.
A summary on this disease is available in Deutsch (2006) Español (2006) Français (2006) Italiano (2006) Nederlands (2006)
Additional information