SHORT syndrome synonyms

SHORT syndrome, also known as SHORT stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay syndrome, is a rare genetic disorder that affects multiple systems in the body. It is characterized by a distinct combination of physical and developmental abnormalities.

Synonyms for SHORT syndrome:

• SHORT stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay syndrome


• SHORT stature syndrome


• SHORT syndrome with Rieger anomaly


• SHORT-Rieger syndrome


• SHORT syndrome with teething delay


• SHORT syndrome with ocular depression


• SHORT syndrome with hernia

Individuals with SHORT syndrome typically have short stature, which is often evident from early childhood. They may also exhibit hyperextensibility of joints, meaning their joints can extend beyond the normal range of motion. Hernias, such as umbilical or inguinal hernias, are common in affected individuals.

Ocular depression, a characteristic feature of SHORT syndrome, refers to the downward displacement of the eyes. This can lead to various eye problems, including vision impairment and increased risk of glaucoma. Rieger anomaly, another component of the syndrome, involves abnormalities in the development of the eyes, teeth, and facial structures.

Delayed teething is a common manifestation of SHORT syndrome, with affected individuals experiencing a delay in the eruption of primary and permanent teeth. This can lead to dental problems and may require dental interventions.

It is important to note that SHORT syndrome is a complex condition with a wide range of symptoms and severity. Genetic mutations in the PIK3R1 gene have been identified as a cause of this syndrome, although the exact mechanisms are still being studied.