What is SHORT syndrome

SHORT syndrome is a rare genetic disorder that affects growth and development. It is characterized by several physical and developmental abnormalities. The acronym SHORT stands for Short stature, Hyperextensibility of joints, Ocular depression, Rieger anomaly, and Teething delay.

Short stature is a key feature of this syndrome, where affected individuals have a significantly shorter height compared to their peers. Hyperextensibility of joints refers to the ability of joints to move beyond the normal range of motion, which can lead to joint instability and related issues.

Ocular depression is a term used to describe the downward slanting of the outer corners of the eyes. Rieger anomaly is a condition affecting the eyes, specifically the iris, which may cause vision problems. Teething delay refers to the delayed eruption of teeth in affected individuals.

SHORT syndrome is caused by mutations in the PIK3R1 gene, which plays a role in regulating cell growth and division. The specific genetic changes lead to the characteristic features of the syndrome.

Management of SHORT syndrome involves addressing the individual symptoms and providing appropriate support and care. This may include growth hormone therapy to improve height, regular eye examinations, and dental interventions for delayed teething.