From the Guidelines
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is primarily categorized into two main types: complete DiGeorge syndrome and partial DiGeorge syndrome, with the latter being more common and involving reduced thymus function with some T-cell production, leading to varying degrees of immunodeficiency 1.
Types of DiGeorge Syndrome
The two types of DiGeorge syndrome are:
- Complete DiGeorge syndrome: characterized by the absence of thymus function, resulting in severe immunodeficiency with essentially no T-cell production.
- Partial DiGeorge syndrome: involves reduced thymus function with some T-cell production, leading to varying degrees of immunodeficiency.
Clinical Features
Both types of DiGeorge syndrome can present with:
- Characteristic facial features
- Congenital heart defects
- Hypocalcemia due to parathyroid abnormalities
- Palatal abnormalities
- Developmental delays
Treatment Approaches
Treatment approaches differ based on the type of DiGeorge syndrome:
- Complete DiGeorge syndrome: often requires thymus transplantation or bone marrow transplantation
- Partial DiGeorge syndrome: may need less intensive interventions focused on managing specific symptoms
Recent Guidelines
Recent clinical practice guidelines for managing adults with 22q11.2 deletion syndrome emphasize the importance of assessing cognitive and adaptive strengths and weaknesses, especially at transition to adulthood, and providing structure and daily routine to facilitate optimal overall functioning 1.
Psychiatric Illnesses
Psychiatric illnesses, such as anxiety disorders and psychotic disorders, are common in 22q11.2DS and are typically of greatest concern to patients and their families, but are treatable conditions 1.
From the Research
Types of DiGeorge Syndrome
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a genetic disorder caused by a microdeletion of the long arm of chromosome 22 2. The types of DiGeorge syndrome can be categorized based on the associated syndromes, which include:
- Velocardiofacial syndrome
- Conotruncal anomaly face syndrome These syndromes are encompassed by the 22q11.2 deletion syndrome, which is due to a microdeletion of chromosome 22q11.2 3.
Characteristics of DiGeorge Syndrome
The characteristics of DiGeorge syndrome include:
- Cardiac defects
- Characteristic facial features
- Thymic hypoplasia
- Cleft palate
- Hypoparathyroidism
- Learning difficulties
- Psychiatric disorders 3, 4, 5, 6 These characteristics can vary in severity and may require a comprehensive evaluation and follow-up program 3.
Subtypes of DiGeorge Syndrome
While there are no distinct subtypes of DiGeorge syndrome, the disorder can manifest in different ways, including:
- Mild to moderate immunodeficiency
- Severe immunodeficiency, which may require a thymic transplant or a fully matched bone marrow transplant 4
- Cardiac anomalies, which are present in the majority of patients 6 Each patient's needs must be tailored to their specific medical problems, and a holistic approach can be very helpful 6.