SHORT syndrome

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Synonyms: Lipodystrophy-Rieger anomaly-diabetes syndrome | Rieger anomaly-partial lipodystrophy syndrome

A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature hyperextensibility of joints ocular depression Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction partial lipodystrophy delayed bone age hernias and a recognizable facial gestalt.

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 Data version May 2024

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SHORT syndrome?

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