DiGeorge syndrome (velocardiofacial syndrome).

DiGeorge syndrome (velocardiofacial syndrome)

Caused by deletion of band q11 region of one copy of chromosome 22.

The deletion follows autosomal dominant inheritance.

It is helpful to test the parents as they may have a milder phenotype and not be aware of it.

However, the majority of cases are de novo.

Patients may have a long face, narrow palpebral fissures and over-folded ear helices. However, the facial phenotype is often subtle.

Affected individuals can have very variable medical complications affecting almost every system:

·       Cardiac defects (particularly tetralogy of Fallot, interrupted aortic arch, ventricular septal defect, and truncus arteriosus)

·       Palatal abnormalities including cleft palate

·       Immune deficiency (impaired T-cell production and function, thymic hypoplasia)

·       Hypocalcemia, especially in neonates (due to parathyroid dysfunction)

·       Renal tract abnormalities

·       Mild to moderate learning difficulties/ developmental delay/ Autism/ADHD.

·     There appears to be an increased incidence of psychiatric disorders, particularly within the schizophrenic spectrum.

Treatments and therapy for 22q11.2 deletion syndrome may include treatments for:

·       Hypoparathyroidism: Taking calcium and vitamin D supplements.

·       Heart problems: Most heart problems related to 22q11.2 deletion syndrome require surgery soon after birth.

·       Limited thymus gland function and mild infections: symptomatic treatment, most children with limited thymic function follow the usual vaccination schedules. Immune system function improves with age for most children whose thymus has been moderately harmed.

·       Severe thymus dysfunction and risk of several severe infections:Treatment may require a transplant of thymus tissue and specialized cells from bone marrow or specialized disease-fighting blood cells.

·       Cleft palate: surgical repair.

·       Overall development: speech therapy, occupational therapy and developmental therapy.

·       Mental health care. Treatment may be recommended if your child is later diagnosed with attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder, depression, or another mental health or behavioral condition.

·    Management of other conditions. These conditions may include feeding and growth issues, hearing or vision problems, and other medical conditions.