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Genetic and Rare Diseases Information Center (GARD)

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SHORT syndrome

Other Names for this Disease
  • Aarskog-Ose-Pande syndrome
  • Partial lipodystrophy with Rieger anomaly and short stature
  • Short stature, Hyperextensibility, Hernia, Ocular depression, Rieger anomaly and Teething delay
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How is SHORT syndrome inherited?

Several familial cases of SHORT syndrome have been described, and they all support autosomal dominant inheritance. For conditions with autosomal dominant inheritance, one abnormal copy of the causative gene in each cell is sufficient to cause signs and symptoms of the condition. The abnormal copy of the gene may be inherited from an affected parent, or it may occur for the first time in an affected individual. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to be affected.[1]
Last updated: 11/2/2011

  1. Koenig, Rainer; Brendel, Leticia; Fuchs, Sigrun. SHORT syndrome. Clinical Dysmorphology. January 2003; 12(1):45-49.