Johnson-McMillin Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.8 | Other specified congenital malformation syndromes, not elsewhere classified |
| ICD-10 online (WHO version 2019) | |
The Johnson-McMillin syndrome is a very rare congenital disease with a combination of hair loss, olfactory dysfunction, conductive hearing loss , malformation of the ears and an underactive sex glands .
The name refers to the authors of the first description in 1983 by Virginia Pineda Johnson and J. Michael McMillin .
Synonyms are Neuroektodermales syndrome type Johnson and alopecia anosmia-deafness-hypogonadism syndrome (also with AADH abbreviated for English Alopecia anosmia deafness hypogonadism syndrome ).
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .
root cause
The etiology is not known; an embryological defect in the differentiation of the neural crest of the head is suspected.
Clinical manifestations
Clinical criteria are:
- Alopecia
- Anosmia or hyposmia
- Conductive hearing loss
- Auricular malformation possibly with atresia of the external auditory canal
- Hypogonadotropic hypogonadism
In addition, heart defects , facial asymmetry, cleft palate , choanal stenosis and an increased susceptibility to tooth decay can occur.
literature
- DN Schweitzer, S. Yano, DL Earl, JM Graham: Johnson-McMillin syndrome, a neuroectodermal syndrome with conductive hearing loss and microtia: report of a new case. In: American journal of medical genetics. Part A. Vol. 120 A, No. 3, July 2003, ISSN 1552-4825 , pp. 400-405, doi : 10.1002 / ajmg.a.20085 , PMID 12838563 .
- LJ Cushman, W. Torres-Martinez, DD Weaver: Johnson-McMillin syndrome: report of a new case with novel features. In: Birth Defects Research Part A - Clinical and Molecular Teratology . Vol. 73, No. 9, September 2005, ISSN 1542-0752 , pp. 638-641, doi : 10.1002 / bdra.20178 , PMID 16116593 .
- N. Abdel-Meguid, OH Gebril, ER Abdelraouf, MA Shafie, M. Bahgat: Johnson-McMillin Microtia Syndrome: New Additional Family. In: Journal of family medicine and primary care. Vol. 3, No. 3, July 2014, ISSN 2249-4863 , pp. 275-278, doi : 10.4103 / 2249-4863.141639 , PMID 25374870 , PMC 4209688 (free full text).
Web links
- Johnson-McMillin Syndrome. In: Online Mendelian Inheritance in Man . (English)
Individual evidence
- ^ VP Johnson, JM McMillin, T. Aceto, G. Bruins: A newly recognized neuroectodermal syndrome of familial alopecia, anosmia, deafness, and hypogonadism. In: American journal of medical genetics. Vol. 15, No. 3, July 1983, ISSN 0148-7299 , pp. 497-506, doi : 10.1002 / ajmg.1320150316 , PMID 6881216 .
- ↑ a b c d Johnson-McMillin Syndrome. In: Orphanet (Rare Disease Database).
