SHORT syndrome is an uncommon condition inherited in an autosomal dominant pattern. Its recognised features are ocular depression, Rieger anomaly, delayed teething, small height, hyperextensibility of the joints, and hernias, which may or may not be present. The syndrome was characterized in 1975. The Medicine Atlas records it as a rare inherited syndrome with a distinctive combination of eye, dental, growth and joint findings, described here only as far as its cited source supports.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) First Described Sources
1. World Health Organization ICD-10: ICD-10 Version:2019 - Q80-Q89
World Health Organization ICD-10Category Q87.1Quote, Category Q87.1
Q87.1 Congenital malformation syndromes predominantly
2. SHORT syndrome (Wikipedia)
Lead section
uncommon autosomal-dominant condition
Lead section [first-described-year]
It was characterized in 1975.
Lead: causative agent category
SHORT syndrome is an uncommon autosomal-dominant condition marked by ocular depression, Rieger anomaly, teething delay, small height, hyperextensibility of joints, and/or hernias.
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