SHORT syndrome
Medical condition / From Wikipedia, the free encyclopedia
Dear Wikiwand AI, let's keep it short by simply answering these key questions:
Can you list the top facts and stats about SHORT syndrome?
Summarize this article for a 10 year old
SHOW ALL QUESTIONS
SHORT syndrome is an uncommon autosomal-dominant condition marked by ocular depression, Rieger anomaly, teething delay, small height, hyperextensibility of joints, and/or hernias. It was characterized in 1975.[1]
This article needs additional citations for verification. (December 2009) |
Quick Facts Other names, Specialty ...
SHORT syndrome | |
---|---|
Other names | -Aarskog-Ose-Pande syndrome
-lipodystrophy-Rieger anomaly-diabetes syndrome -Rieger anomaly-partial lipodystrophy syndrome -PIK3R1-associated syndromic insulin resistance with lipoatrophy |
SHORT syndrome is inherited in a autosomal dominant manner | |
Specialty | Multidisciplinary |
Causes | PIK3R1 mutation. |
Frequency | Rare, less than 50 cases have been reported. |
Close