Differentials
Nonsyndromic anomalies
SIGNS / SYMPTOMS
The variable penetrance of DiGeorge may produce features that overlap with other syndromes.
INVESTIGATIONS
Assessment for 22q 11.2 deletion distinguishes most patients with DiGeorge syndrome from the nonsyndromic variants of the specific anomalies.
Isotretinoin exposure
SIGNS / SYMPTOMS
Fetal exposure to isotretinoins, such as those used for acne, causes the syndrome known as retinoic acid embryopathy, which can result in similar features to DiGeorge syndrome.[72][73][74][75] A history of isotretinoin exposure is useful in differentiating this syndrome. More common in this syndrome than in 22qDS are microtia or anotia, micrognathia, and spontaneous abortion.[72]
INVESTIGATIONS
Absence of 22q11.2 deletion.
CHARGE syndrome
SIGNS / SYMPTOMS
Infants with 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 (CHARGE syndrome) have features that may overlap with DiGeorge syndrome, and some patients described as having CHARGE syndrome have been found to have 22q deletions.[76][77][78][79][80][81]
INVESTIGATIONS
Some patients with CHARGE syndrome may have the 22q 11.2 deletion, while others will have CHD7 mutations.[79] Infants with CHARGE syndrome should have a T-cell count to exclude immunodeficiency.
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