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Radioulnar synostosis-developmental delay-hypotonia syndrome
Disease 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).
ORPHA:3270
Classification level: DisorderA summary on this disease is available in Español (2016) Italiano (2016) Nederlands (2016)
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