OMIM 269880 | DiseasesDB 30068 | |
SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems.
It was characterized in 1975.
Presentation
SHORT is an acronym for short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, rieger anomaly and teething delay.
Other characteristics common in SHORT syndrome are a triangular face, small chin with a dimple, a loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech.
References
SHORT syndrome Wikipedia(Text) CC BY-SA