SHORT Syndrome is a rare genetic disorder characterized by short stature, hyperextensibility of joints, ocular depression, Rieger anomaly, and teething delay. It is caused by a mutation in the PTHLH gene. Symptoms may include short stature, joint hypermobility, delayed teething, low-set ears, and a sunken chest. Other features may include hearing loss, heart defects, and developmental delays.

The primary symptoms of SHORT Syndrome (which stands for Short stature, Hyperextensibility of joints, Ocular depression, Rieger anomaly, and Teething delay) include:

-Short stature
-Hyperextensibility of joints
-Ocular depression (downward slanting of the eyes)
-Rieger anomaly (abnormalities of the eyes)
-Teething delay
-Delayed motor development
-Speech delay
-Intellectual disability
-Behavioral problems
-Feeding difficulties
-Hypotonia (low muscle tone)
-Scoliosis (curvature of the spine)
-Hearing loss
-Heart defects
-Kidney abnormalities

SHORT Syndrome is a rare genetic disorder caused by a mutation in the PIK3CA gene. This gene is responsible for producing a protein that helps regulate cell growth and division. The mutation in this gene can lead to a variety of physical and developmental issues.

The primary treatment for SHORT Syndrome is physical, occupational, and speech therapy. These therapies can help improve motor skills, communication, and social skills. Other treatments may include medications to help with anxiety, depression, and other behavioral issues. Additionally, dietary modifications may be recommended to help with any digestive issues.

The exact cause of SHORT Syndrome is unknown, but there are several risk factors that may increase the likelihood of developing the condition. These include:

• Having a family history of SHORT Syndrome
• Being of Caucasian descent
• Being a male
• Having a mutation in the PIK3CA gene
• Having a mutation in the SHOC2 gene
• Having a mutation in the PTPN11 gene
• Having a mutation in the KRAS gene
• Having a mutation in the MAP2K1 gene
• Having a mutation in the MAP2K2 gene
• Having a mutation in the MAPK1 gene
• Having a mutation in the MAPK3 gene
• Having a mutation in the MAPK14 gene
• Having a mutation in the MAPK4 gene
• Having a mutation in the MAPK6

At this time, there is no cure for SHORT Syndrome. However, there are medications that can help manage the symptoms. These include medications to help with sleep, anxiety, and depression, as well as medications to help with physical symptoms such as muscle spasms and seizures. It is important to speak with a doctor to determine the best treatment plan for an individual.