SHORT syndrome

SHORT syndrome is a rare disorder marked by several congenital anomalies. People with this condition commonly show small stature, joint hyperextensibility, and a set of distinct facial features including ocular depression. Additionally, Rieger anomaly and delayed teething are noted as part of the condition's presentation. The disorder is also characterized by other features such as mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, and hernias. These various signs together form a recognizable pattern that can raise suspicion for the condition, which is linked to a mutation in the PIK3R1 gene.

Common signs of SHORT syndrome include short stature, joint hyperextensibility, ocular depression, and Rieger anomaly, as well as teething delays. Other features can include partial lipodystrophy, hernias, and delayed bone age. The collection of these symptoms helps in identifying the condition.

SHORT syndrome is caused by a mutation in the PIK3R1 gene. This genetic change leads to the developmental anomalies seen in affected individuals. The disorder is not inherited in a typical pattern, and the mutation in PIK3R1 is the primary cause identified from available research.

Information about treatment options is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.