From the Guidelines
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is characterized by high-yield features including congenital heart disease, palatal abnormalities, immunodeficiency, endocrine disorders, and developmental delays.
Key Features
- Congenital heart disease: a common feature of DiGeorge syndrome, often presenting in infancy 1
- Palatal abnormalities: including cleft palate and velopharyngeal incompetence, which can affect speech and swallowing 1
- Immunodeficiency: due to thymic hypoplasia or aplasia, increasing the risk of infections 1
- Endocrine disorders: such as hypoparathyroidism, hypothyroidism, and growth hormone deficiency, which can affect growth and development 1
- Developmental delays: including cognitive, speech, and language delays, which can become more apparent in early to late childhood and adolescence 1
Additional Features
- Neuropsychiatric features: such as anxiety, depression, and attention deficit hyperactivity disorder (ADHD), which can occur in individuals with DiGeorge syndrome 1
- Gastrointestinal problems: including gastroesophageal reflux disease (GERD), constipation, and feeding difficulties 1
- Genitourinary anomalies: such as renal agenesis, ectopia, or dysplasia, which can increase the risk of urinary tract infections and other complications 1
- Musculoskeletal features: including scoliosis, club foot, and patellar dislocation, which can affect mobility and quality of life 1
From the Research
High-Yield Features of DiGeorge Syndrome
The high-yield features of DiGeorge syndrome include:
- Congenital heart disease, particularly conotruncal malformations 2, 3
- Absence or hypoplasia of the thymus, leading to immunodeficiency and recurrent infections 2, 3, 4
- Hypoparathyroidism, resulting in hypocalcemia 2, 3
- Facial abnormalities, such as velocardiofacial syndrome or Shprintzen syndrome 3, 5
- Delayed psychomotor development and intellectual disability 2
- Neurological and psychiatric disorders, including seizures and auto- and heteroaggressive behavior 2, 4
- Gastrointestinal problems and other comorbidities 2, 3
Diagnostic Features
Diagnosis of DiGeorge syndrome can be made through:
- Genetic testing, including chromosomal microarray and FISH techniques 6, 4
- Detection of 22q11.2 deletion, which is the underlying genetic cause of the syndrome 3, 6, 4
- Clinical evaluation, including assessment of congenital heart disease, facial abnormalities, and immunological disorders 2, 3, 5
Importance of Early Diagnosis
Early diagnosis of DiGeorge syndrome is crucial for: