Which are the symptoms of Shprintzen-Goldberg Syndrome?

Symptoms of Shprintzen-Goldberg Syndrome

Shprintzen-Goldberg Syndrome (SGS), also known as 22q11.2 deletion syndrome, is a rare genetic disorder that affects multiple systems in the body. It is characterized by a wide range of symptoms that can vary in severity from person to person. Here are some of the key symptoms associated with Shprintzen-Goldberg Syndrome:

Craniofacial Abnormalities:

Individuals with SGS often exhibit distinct craniofacial features. These may include a long, narrow face, a high forehead, a prominent nasal bridge, a small chin, and down-slanting palpebral fissures (the opening between the upper and lower eyelids).

Connective Tissue Abnormalities:

SGS affects the connective tissues throughout the body. This can lead to various abnormalities such as joint hypermobility (excessive flexibility), scoliosis (abnormal curvature of the spine), and aortic root dilation (enlargement of the main blood vessel that carries blood away from the heart).

Cardiovascular Issues:

Many individuals with Shprintzen-Goldberg Syndrome have heart defects. These can include ventricular septal defects (holes in the wall separating the heart's chambers), tetralogy of Fallot (a combination of heart defects), and abnormalities of the aorta.

Intellectual and Developmental Disabilities:

Individuals with SGS often experience intellectual and developmental delays. They may have learning difficulties, speech delays, and problems with motor skills. Some individuals may also have behavioral issues, such as attention deficit hyperactivity disorder (ADHD) or autism spectrum disorder (ASD).

Gastrointestinal Problems:

SGS can affect the gastrointestinal system, leading to issues such as gastroesophageal reflux disease (GERD), feeding difficulties, and constipation. These problems can contribute to poor weight gain and growth in affected individuals.

Immune System Dysfunction:

Some individuals with Shprintzen-Goldberg Syndrome may have immune system abnormalities, making them more susceptible to infections. Recurrent respiratory infections, ear infections, and autoimmune disorders are commonly observed.

Other Features:

In addition to the above symptoms, individuals with SGS may exhibit other features such as cleft palate, dental abnormalities, hearing loss, kidney abnormalities, and eye problems like strabismus (crossed or misaligned eyes).

It is important to note that not all individuals with Shprintzen-Goldberg Syndrome will have all of these symptoms. The severity and combination of symptoms can vary widely. Therefore, a comprehensive evaluation by a medical professional is necessary to diagnose and manage the condition.