Johnson neuroectodermal syndrome
Johnson neuroectodermal syndrome
Definition
Johnson neuroectodermal syndrome is characterized by alopecia, anosmia or hyposmia, conductive deafness with malformed ears and microtia and/or atresia of the external auditory canal, and hypogonadotropic hypogonadism.
Also known as alopecia-anosmia-conductive hearing loss-hypogonadism syndrome, alopecia-anosmia-deafness-hypogonadism syndrome, Johnson neuroectodermal syndrome, Johnson-McMillin syndrome — per MONDO