SHORT syndrome

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.

Also known as: Aarskog-Ose-Pande syndrome, Rieger anomaly-partial lipodystrophy syndrome, SHORT syndrome, lipodystrophy-Rieger anomaly-diabetes syndrome, short syndrome, lipodystrophy, partial, with Rieger anomaly and short stature, partial lipodystrophy with Rieger anomaly and short stature, short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly and teething delay

3 clinical trials for this condition and its sub-types, 0 tagged with SHORT syndrome itself.