Langer-Giedion Syndrome (Trichorhinophalangeal Syndrome, Type II)
General: Rare congenital condition.
Ocular: Iris colobomata.
Clinical: Mental retardation, bulbous nose, sparse hair, cone-shaped epiphyses, microcephaly, multiple exostoses, redundant skin; less consistently, 'floppy infants,' hyperextensible joints, recurrent upper respiratory tract infections, delayed speech development, and characteristic facies.
Buhler EM. Langer-Giedion syndrome and 8q- deletion. Am J Med Genet 1982; 11:359.
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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