Radioulnar synostosis-developmental delay-hypotonia syndrome
MONDO:0009952Radioulnar 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).
Also known as: Der Kaloustian-McIntosh-Silver syndrome, radioulnar synostosis with developmental delay and hypotonia syndrome, der Kaloustian mcintosh silver syndrome, radioulnar synostosis, unilateral, with developintellectual disability and hypotonia, radioulnar synostosis, unilateral, with developmental retardation and hypotonia, unilateral radio-ulnar synostosis, generalised hypotonia, developintellectual disability, and a characteristic facial appearance, unilateral radio-ulnar synostosis, generalised hypotonia, developmental retardation, and a characteristic facial appearance, unilateral radio-ulnar synostosis, generalized hypotonia, developintellectual disability, and a characteristic facial appearance
19 clinical trials for this condition and its sub-types, 0 tagged with Radioulnar synostosis-developmental delay-hypotonia syndrome itself.
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