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SHORT syndrome

Dr Yuranga Weerakkody et al.

The SHORT syndrome refers to an acronym which primarily comprises of the following features

S : short stature
H : hyperextensibility of joints and / or inguinal hernia
O : ocular depression
R : Rieger anomaly
T : teething delay

In a addition to these there can be several associated minor features which include

Affected individuals are thought to have normal intellect or mild retardation.

Etymology

The acronym is thought to have been fist used by Gorlin et al and Sensenbrenner et al in 1975 2.

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