Clinical features- Digeorge Syndrome
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by the deletion of a small piece of chromosome 22. The clinical features of DiGeorge syndrome can vary widely among affected individuals, but there are several common features associated with this condition. Here are some of the clinical features commonly seen in individuals with DiGeorge syndrome:
- Cardiac anomalies: Congenital heart defects are a common feature of DiGeorge syndrome. These defects can include ventricular septal defects (VSD), tetralogy of Fallot, interrupted aortic arch, and others.
- Immunodeficiency: DiGeorge syndrome often leads to immune system abnormalities, resulting in a weakened immune response. This can lead to recurrent infections, particularly of the respiratory tract and ears.
- Facial abnormalities: Individuals with DiGeorge syndrome may have distinctive facial features, although these can vary widely. Common facial characteristics may include a small mouth, low-set ears, hooded eyelids, a prominent nose, and a narrow face.
- Hypoparathyroidism: The parathyroid glands, which regulate calcium levels in the body, may be underdeveloped or absent in DiGeorge syndrome. This can lead to low calcium levels (hypocalcemia) and related symptoms such as muscle cramps, seizures, and abnormal heart rhythms.
- Developmental delays: Children with DiGeorge syndrome often experience delays in their physical and cognitive development. These delays can affect milestones such as sitting, walking, talking, and overall intellectual functioning.
- Speech and language difficulties: Many individuals with DiGeorge syndrome have speech and language delays or disorders. This can include difficulties with articulation, expressive language, and understanding or processing language.
- Kidney abnormalities: Some individuals with DiGeorge syndrome may have kidney malformations, which can range from mild to severe.
- Behavioral and psychiatric issues: Individuals with DiGeorge syndrome may be at an increased risk of developing behavioral and psychiatric disorders, including attention deficit hyperactivity disorder (ADHD), autism spectrum disorder (ASD), anxiety, and mood disorders.
It’s important to note that not all individuals with DiGeorge syndrome will exhibit all of these features, and the severity of symptoms can vary widely. The specific clinical presentation and severity of DiGeorge syndrome can be influenced by the size and location of the chromosomal deletion, as well as other genetic and environmental factors. If you or someone you know is suspected of having DiGeorge syndrome, it is important to consult with a healthcare professional for proper evaluation, diagnosis, and management.