History and exam

Key diagnostic factors

common

presence of risk factors

A strong risk factor is a parent with DiGeorge syndrome.

cyanosis

May be seen in tetralogy of Fallot and truncus arteriosus, two characteristic cardiac disorders in DiGeorge syndrome.

signs of heart failure

Interrupted aortic arch and ventricular septal defect may present with signs of heart failure, such as hepatomegaly, oedema, poor feeding, or cardiogenic shock.

heart murmur

Many of the cardiac lesions characteristic in DiGeorge syndrome have murmurs associated with them.

characteristic facial features

Present in most patients.[59] These include a bulbous nose tip and prominent ears.

Facial features become less prominent as the child gets older.

cleft lip and palate

May range from velopharyngeal insufficiency to submucous clefts to overt cleft palate.[61]

Hypernasal speech is common even in those without overt clefts.[62]

faltering growth

Syndrome-specific growth charts have been developed for DiGeorge syndrome.[46][47]​ Growth faltering is common in comparison with WHO standard growth charts.

uncommon

seizure or tetany

Hypocalcaemia is common, although only a subset of patients actually present with seizure.[67]

Other diagnostic factors

common

presentation in infancy

Although patients may present at any age, the vast majority are still diagnosed in infancy.[59]

feeding difficulty

A non-specific finding but highly characteristic of the syndrome, not necessarily due to cleft palate.[60]

Consistent reductions in olfaction have also been demonstrated in children with 22q11.2 deletion.[43]

speech delay

Occurs in most patients and is unrelated to the palatal insufficiency.[63]

non-verbal learning disorder

Mathematical ability is much more affected than language skills.[64]

The learning disorder is primarily non-verbal, but this may not be appreciated early in life because of speech delay. Once speech is acquired; however, language ability is relatively preserved.

frequent infections

Sinopulmonary infection and viral infection incidences are increased.[42]​[68]​​​ Occur regardless of presence of detectable immunodeficiency.

uncommon

schizophrenia

Occurs at the same age as typical schizophrenia and is indistinguishable from it.[65]

Screening of people with schizophrenia who do not have other signs of DiGeorge syndrome is usually not useful.[66]

Up to 20% of patients may develop schizophrenia.[65]

features of CHARGE syndrome

22q11.2 deletion should be tested for in patients with a clinical diagnosis of CHARGE syndrome due to the phenotypic overlap between both syndromes.[53]

Features of CHARGE syndrome include: coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness.

Risk factors

strong

parent with DiGeorge syndrome

A child of a parent with DiGeorge syndrome is at high risk of the syndrome, as it will be inherited in an autosomal dominant fashion. Therefore, there is a 50% risk of the disorder in each pregnancy, when one parent is affected, and the disorder may be more severe in the child.

Although this risk factor is thought to be uncommon, findings in parents may be extremely subtle, and careful examination and consideration of 22q11.2 deletion testing is recommended, as the risk to future children is high if the parents have the deletion.[41]

Most DiGeorge syndrome cases are sporadic and no risk factors are known.[14]

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