Aplasia cutis-myopia syndrome explained

Aplasia cutis-myopia syndrome
Synonyms:	Aplasia cutis congenita, high myopia, and cone-rod dysfunction
Specialty:	Medical genetics
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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]

Notes and References

1. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Aplasia cutis myopia syndrome . 2022-09-22 . www.orpha.net . en.
2. Web site: Entry - 601075 - APLASIA CUTIS CONGENITA, HIGH MYOPIA, AND CONE-ROD DYSFUNCTION - OMIM . 2022-09-22 . omim.org . en-us.
3. 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 . 10.1111/j.1365-2133.1988.tb02577.x . 0007-0963 . 3395567. 43716280 .
4. 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 . 10.1002/(SICI)1096-8628(19960102)61:1<42::AID-AJMG8>3.0.CO;2-Z . 0148-7299 . 8741916.
5. Web site: Aplasia cutis myopia - About the Disease - Genetic and Rare Diseases Information Center . 2022-09-22 . rarediseases.info.nih.gov . en.