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Smith-Theiler-Schachenmann Syndrome



Smith-Theiler-Schachenmann Syndrome Definition


Smith-Theiler-Schachenmann syndrome, also known as rib-gap syndrome or cerebrocostomandibular syndrome is an autosomal recessive disorder characterized by a deformed upper jaw, a refracted tongue, and rib dysplasia. These malformations usually lead to respiratory problems as well as moderate to severe mental retardation.