Aplasia cutis-myopia syndrome
| Aplasia cutis-myopia syndrome | |
|---|---|
| Other names | Aplasia cutis congenita, high myopia, and cone-rod dysfunction |
| Specialty | Medical genetics |
Aplasia cutis-myopia syndrome is a rare genetic disorder characterized by a combination of aplasia cutis congenita, high myopia, and dysfunction of the cone-rods.[1] Other findings include congenital nystagmus, atrophy of the iris and pigment epithelium, easily scarred skin and keratoconus.[2] Only 4 cases (from the United Kingdom[3] and Israel,[4] respectively) have been described in medical literature. Transmission is either autosomal dominant or autosomal recessive.[5]
References
[edit]- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Aplasia cutis myopia syndrome". www.orpha.net. Retrieved 2022-09-22.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Entry - 601075 - APLASIA CUTIS CONGENITA, HIGH MYOPIA, AND CONE-ROD DYSFUNCTION - OMIM". omim.org. Retrieved 2022-09-22.
- ^ Leung, R. S.; Beer, W. E.; Mehta, H. K. (May 1998). "Aplasia cutis congenita presenting as a familial triad of atrophic alopecia, ocular defects and a peculiar scarring tendency of the skin". The British Journal of Dermatology. 118 (5): 715–720. doi:10.1111/j.1365-2133.1988.tb02577.x. ISSN 0007-0963. PMID 3395567. S2CID 43716280.
- ^ Gershoni-Baruch, R.; Leibo, R. (1996-01-02). "Aplasia cutis congenita, high myopia, and cone-rod dysfunction in two sibs: a new autosomal recessive disorder". American Journal of Medical Genetics. 61 (1): 42–44. doi:10.1002/(SICI)1096-8628(19960102)61:1<42::AID-AJMG8>3.0.CO;2-Z. ISSN 0148-7299. PMID 8741916.
- ^ "Aplasia cutis myopia - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-09-22.
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