SHORT syndrome

SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems.

SHORT syndrome
Other namesLipodystrophy-Rieger anomaly-diabetes syndrome[1]
SHORT syndrome is inherited in a autosomal dominant manner

It was characterized in 1975.[2]

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.

Diagnosis

Treatment

References
  1. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: SHORT syndrome". www.orpha.net. Retrieved 22 October 2019.
  2. Gorlin RJ, Cervenka J, Moller K, Horrobin M, Witkop CJ (1975). "Malformation syndromes. A selected miscellany". Birth Defects Orig. Artic. Ser. 11 (2): 39–50. PMID 819054.
Classification
External resources


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