label: SHORT syndrome
label_lc: short syndrome
description: A rare disorder characterized by multiple congenital anomalies, including short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay in which the cause of the disease is a mutation in PIK3R1 gene. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.