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 addition to these there can be numerous associated minor features which include
- intrauterine growth restriction (IUGR)
- slow weight gain
- frequent illness
- triangular facies
- anteverted ears
- telecanthus
- deep-set eyes
- wide nasal bridge
- hypoplastic alae nasi
- chin dimple
- micrognathia
- clinodactyly
- partial lipodystrophy
- hearing loss
- functional heart murmur
- delayed bone age
- delayed speech
- glucose intolerance
- insulinopenic diabetes
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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