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SHORT syndrome

SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems. SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems. It was characterized in 1975. 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.

[ "Insulin resistance", "Nephrocalcinosis", "PIK3R1", "Lipodystrophy", "antiretroviral therapy" ]
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