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Radioulnar synostosis-developmental delay-hypotonia syndrome
rareRadioulnar 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).
- Identifiers
- MONDO:0009952 OMIM:266255Orphanet:3270
- Part of
- Congenital limb malformationCongenital nervous system disorderCongenital radioulnar synostosisDevelopmental disabilityMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- Der Kaloustian-McIntosh-Silver syndrome · radioulnar synostosis with developmental delay and hypotonia syndrome · 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
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