SHORT syndrome

Last revised by Bahman Rasuli on 15 Jun 2020

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
  • RRieger anomaly
  • T: teething delay

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

Affected individuals are thought to have normal intellect or mild intellectual disability.

History and etymology

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

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