Other Names for this Disease
- Short stature, Hyperextensibility, Hernia, Ocular depression, Rieger anomaly and Teething delay
- Aarskog-Ose-Pande syndrome
- Partial lipodystrophy with Rieger anomaly and short stature
On this page
SHORT syndrome is inherited in an autosomal dominant pattern. 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.
Last updated: 3/7/2016
- Koenig, Rainer; Brendel, Leticia; Fuchs, Sigrun. SHORT syndrome. Clinical Dysmorphology. January 2003; 12(1):45-49.
- Innes AM. SHORT Syndrome. GeneReviews. May 15, 2014; http://www.ncbi.nlm.nih.gov/books/NBK201365/.