Radioulnar synostosis-developmental delay-hypotonia syndrome

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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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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