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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.
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.
SHORT syndrome is a mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay.
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).
2 gru 2022 · Purpose of review: This review describes the unique pathogenesis of SHORT syndrome, a rare genetic form of insulin resistance syndrome, and recent advances in understanding the underlying mechanisms.
SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the ...
SHORT syndrome is a mnemonic for short stature, hyperextensibility, ocular depression (deeply set eyes), Rieger anomaly, and teething delay.
