Which are the symptoms of SHORT syndrome?

SHORT syndrome is a rare genetic disorder that affects various parts of the body, leading to a range of symptoms and developmental challenges. It is characterized by short stature, hyperextensibility of joints, ocular depression, Rieger anomaly, and teething delay. The acronym "SHORT" stands for:

• Short stature: Individuals with SHORT syndrome typically have a significantly shorter stature compared to their peers. This growth deficiency is usually evident from early childhood and persists throughout life.


• Hyperextensibility of joints: Joint hypermobility is a common feature of SHORT syndrome. It refers to the ability to extend joints beyond the normal range of motion. This can result in joint instability and increased risk of dislocations.


• Ocular depression: Ocular depression, also known as deep-set eyes, is a characteristic feature of SHORT syndrome. It refers to the appearance of eyes that are set deeper into the eye sockets than usual. This can give the eyes a sunken or depressed appearance.


• Rieger anomaly: Rieger anomaly is a congenital eye abnormality that affects the development of the iris, which is the colored part of the eye. It can cause iris hypoplasia (underdevelopment), iris stromal defects, and other structural abnormalities. Rieger anomaly is commonly associated with SHORT syndrome.


• Teething delay: Delayed teething is another common symptom of SHORT syndrome. Children with this condition may experience a delay in the eruption of their primary (baby) teeth, which can affect their oral health and development.

Additionally, individuals with SHORT syndrome may exhibit other less prominent features, including a round face, a small chin, a high-pitched voice, and a small mouth with a protruding upper lip. They may also have hearing loss, particularly sensorineural hearing loss, which affects the inner ear.

It is important to note that the severity and combination of symptoms can vary among individuals with SHORT syndrome. Some individuals may only exhibit a subset of the characteristic features, while others may have additional health issues such as intellectual disability, heart defects, or skeletal abnormalities.

Diagnosis of SHORT syndrome is typically based on clinical evaluation, medical history, and genetic testing. Genetic testing can help identify mutations in the PIK3R1 gene, which is associated with the condition.

Management of SHORT syndrome involves a multidisciplinary approach, addressing the specific needs of each individual. This may include growth hormone therapy to improve stature, physical therapy to address joint hypermobility, early intervention for developmental delays, and regular monitoring of ocular and dental health.

In conclusion, SHORT syndrome is a rare genetic disorder characterized by short stature, joint hypermobility, ocular depression, Rieger anomaly, and teething delay. While these are the primary symptoms, individuals with SHORT syndrome may also exhibit other features and may have additional health concerns. Early diagnosis and appropriate management can help optimize the quality of life for individuals with this condition.