Johnson neuroectodermal syndrome
Synonyms: Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome | Alopecia-anosmia-deafness-hypogonadism syndrome | Johnson-McMillin syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Johnson neuroectodermal syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
Clinical Trials
For a list of clinical trials in this disease area, please click here.