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SHORT syndrome is an uncommon autosomal-dominant condition marked by ocular depression, Rieger anomaly, teething delay, small height, hyperextensibility of joints, and/or hernias. It was characterized in 1975.
Among children without growth hormone deficiency, short stature may be caused by Turner syndrome or Noonan syndrome, chronic kidney disease, being small for gestational age at birth, Prader–Willi syndrome, Wiedemann-Steiner syndrome, or other conditions.
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.
For their part, however, women have been documented to face stigma for being tall (Salska et al., 2008) as well as for being short (Kruse, 2003; Rott, 2013) and consequently face body image...
15 maj 2014 · SHORT syndrome is a mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay.
27 gru 2013 · This chapter examines the everyday experiences of short women, focusing on the problems they face and the coping strategies used to navigate being short in a heightist society. Further, this chapter views height as a stigmatized identity, which both negatively and positively impacts short women.
19 lis 2022 · SHORT syndrome is a rare autosomal dominant disorder caused by mutations in the PI3KR1 gene. A salient clinical feature is profound insulin resistance (IR).
