Coloboma of Macula with Type B Brachydactyly (Apical Dystrophy)& 222h75c nbsp; & 222h75c nbsp; & 222h75c nbsp; & 222h75c nbsp; & 222h75c nbsp; & 222h75c nbsp; & 222h75c nbsp; & 222h75c nbsp; & 222h75c nbsp; & 222h75c nbsp; & 222h75c nbsp; 266
General: Autosomal dominant; bilateral pigmented macular coloboma and brachydactyly.
Ocular: Myopia; retinal detachment; coloboma of retina, choroid, sclera, and macula.
Clinical: Cleft palate; flexion deformity of distal interphalangeal joints of little fingers of hand; retarded growth; delayed sexual maturity; recurrent dislocation of left patella; short feet; coxa valga; genu valgum.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Smith RD, et al. Congenital macula colobomas and short limb skeletal dysplasia. Am J Med Genet 1980; 5:365-371.
Sorsby A. Congenital coloboma of macular, together with an account of familial occurrence of bilateral macular coloboma in association with apical dystrophy of hands and feet. Br J Ophthalmol 1935; 19:65-90.
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