DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by the deletion of a small piece of chromosome 22. This deletion affects multiple systems inDiGeorge syndrome, also called 22q11.2 deletion syndrome, is a complex genetic condition that can affect many parts of the body, leading to a wide range of signs and symptoms. The signs of DiGeorge syndrome vary greatly from person to person, but there are several common features that can help identify the condition.
One of the earliest and most noticeable signs is related to the immune system. Many individuals with DiGeorge syndrome have an underdeveloped or absent thymus gland, which is crucial for producing T-cells that fight infections. This can lead to frequent infections, especially in infancy and early childhood, because the immune system is weakened.
Heart defects are another common sign. Many babies with DiGeorge syndrome are born with congenital heart problems, such as defects in the walls between the heart chambers or abnormalities in the heart valves. These heart issues can cause symptoms like difficulty breathing, poor feeding, or bluish skin due to lack of oxygen.
Facial features often provide clues to the syndrome. People with DiGeorge syndrome may have a distinctive facial appearance, including a long face, almond-shaped eyes, a small jaw, low-set ears, and a wide nose bridge. These features can be subtle and vary widely.
Problems with the palate, such as a cleft palate or a high-arched palate, are also common. These can cause difficulties with feeding, speech, and sometimes ear infections.
Developmental delays and learning difficulties are frequently seen. Children with DiGeorge syndrome may experience delays in reaching milestones like sitting, walking, or talking. Many have mild to moderate intellectual disabilities or learning challenges, and some may have speech delays.
Behavioral and psychiatric issues can also be part of the syndrome. Some individuals develop attention deficit hyperactivity disorder (ADHD), anxiety, or autism spectrum disorders. There is also a significantly increased risk of psychiatric conditions such as schizophrenia in adolescence or adulthood.
Other signs include low calcium levels in the blood, which can cause muscle cramps or seizures, due to underdeveloped parathyroid glands. Feeding difficulties, failure to thrive in infancy, and hearing loss due to recurrent ear infections may also be present.
In summary, the signs of DiGeorge syndrome cover a broad spectrum and often include immune deficiencies, heart defects, distinctive facial features, palate abnormalities, developmental delays, behavioral challenges, and low calcium levels. Because the symptoms can vary so much, diagnosis often requires genetic testing and a thorough clinical evaluation.
