Jansen Disease (Metaphyseal Dysostosis)
General: Affects both sexes; etiology unknown; autosomal dominant.
Ocular: Exophthalmos.
Clinical: Mental retardation; muscular atrophy; flat nose; large mouth; dwarfism; deafness; metaphyses of all bones affected with marked widening.
Jansen M. Ubex Atypische Condrodystrophie (Achondroplasic) und Uber Eine Noch Nicht Beschriebene Angeborene Washstumsstoring des Knochensystems Metaphysare Dysostosis. Orthop Chir 1934; 61:253-286.
Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981:434.
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/.
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