Johnson–McMillin syndrome, also known as Johnson neuroectodermal syndrome, is a neuroectodermal syndrome characterized by conductive hearing loss and alopecia, microtia, conductive hearing loss, anosmia/hyposmia, and hypogonadotropic hypogonadism.[2][3]
Johnson–McMillin syndrome | |
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Other names | Johnson neuroectodermal syndrome,[1] alopecia–anosmia–deafness–hypogonadism syndrome[1] |
Johnson–McMillin syndrome is inherited in an autosomal dominant manner. | |
Specialty | Medical genetics |
See also
editReferences
edit- ^ a b "OMIM Entry - % 147770 - JOHNSON NEUROECTODERMAL SYNDROME". www.omim.org. Retrieved 2019-12-24.
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 831. ISBN 978-1-4160-2999-1.
- ^ Abdel-Meguid, N; Gebril, OH; Abdelraouf, ER; Shafie, MA; Bahgat, M (2014). "Johnson-McMillin Microtia Syndrome: New Additional Family". J Family Med Prim Care. 3 (3): 275–8. doi:10.4103/2249-4863.141639. PMC 4209688. PMID 25374870.