Also Known As
Der Kaloustian-McIntosh-Silver syndromeradioulnar synostosis with developmental delay and hypotonia syndromeder Kaloustian mcintosh silver syndromeradioulnar synostosis, unilateral, with developintellectual disability and hypotoniaradioulnar synostosis, unilateral, with developmental retardation and hypotoniaunilateral radio-ulnar synostosis, generalised hypotonia, developintellectual disability, and a characteristic facial appearanceunilateral radio-ulnar synostosis, generalised hypotonia, developmental retardation, and a characteristic facial appearanceunilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearanceunilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance
Definition
Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).