Symptoms of DiGeorge Syndrome
The symptoms of DiGeorge syndrome vary widely from one individual to another. Some children show clear signs shortly after birth, while others may not be diagnosed until much later. The severity also ranges from mild to life-threatening, depending on which systems are affected.
One of the most common features of DiGeorge syndrome is congenital heart defects. These may include interrupted aortic arch, ventricular septal defects (holes in the heart), or tetralogy of Fallot. These conditions can cause blue-tinged skin (cyanosis), difficulty breathing, and poor feeding in newborns. Surgery is often needed to correct heart problems.
Another key feature is a poorly developed or absent thymus gland. The thymus plays a crucial role in the immune system. When it is underdeveloped, children are more prone to infections. Some may have frequent ear infections, pneumonia, or other serious illnesses. In rare cases, the immune deficiency can be severe and require lifelong monitoring.
Low levels of calcium in the blood, caused by underdeveloped parathyroid glands, can also occur. This can lead to muscle cramps, seizures, and tingling sensations. These symptoms often appear in infancy and can be managed with calcium and vitamin D supplements.
Distinct facial features are common. These may include a long face, small jaw, wide-set eyes, hooded eyelids, and low-set ears. However, these features can be subtle and easily missed, particularly in populations with diverse ethnic backgrounds, like South Africa.
Symptoms of DiGeorge Syndrome
Children with DiGeorge syndrome may also have feeding difficulties, speech delays, and nasal-sounding speech due to cleft palate or other structural issues. Behavioural and learning challenges are also common, including ADHD, anxiety, and developmental delays. Many affected children benefit from early intervention therapies such as occupational, speech, and educational support.
Because symptoms affect many different body systems, a coordinated, multidisciplinary approach is essential. Monitoring and regular check-ups can help manage symptoms as the child grows. Though it may seem overwhelming, early support helps children with DiGeorge syndrome reach their full potential.
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