Radioulnar synostosis-developmental delay-hypotonia syndrome
Synonyms: Der Kaloustian-McIntosh-Silver syndrome
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).
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Radioulnar synostosis-developmental delay-hypotonia syndrome?
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