Gansslen syndrome (familial hemolytic icterus; hematologic-metabolic bone disorder)

General: Autosomal dominant inheritance; occurs mainly in Caucasians.

Ocular: Hypertelorism; microphthalmos; epicanthus; narrowing of palpebral fissure; lid hemorrhages; myopia; dyschromatopsia; hypochromic heterochromia; scleral icterus; conjunctival hemorrhages; retinal pallor and edema in advanced stages; dilated retinal arteries and veins; round retinal hemorrhages in deeper retinal layers; retinal exudates and macular star.

Clinical: Splenomegaly; hemolytic crises; dental deformities; brachydactyly; polydactyly; congenital hip luxation; oxycephaly; deformities of the outer ear and otosclerosis.

Gansslen M. Uber Hamolytischen Ikterus. Dtsch Arch Klin Med 1922; 40:

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/.