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SHORT syndrome

Disease definition

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.

ORPHA:3163

Classification level: Disorder
  • Synonym(s):
    • Lipodystrophy-Rieger anomaly-diabetes syndrome
    • Rieger anomaly-partial lipodystrophy syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.1
  • OMIM: 269880
  • UMLS: C0878684
  • MeSH: C537327
  • GARD: 7633
  • MedDRA: -

Detailed information

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