DiGeorge Syndrome Differential Diagnoses

Updated: Oct 14, 2021
  • Author: Erawati V Bawle, MD, FAAP, FACMG; Chief Editor: Harumi Jyonouchi, MD  more...
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Diagnostic Considerations

Diagnosis of 22q11.2DS is based on abnormal charecteristic facial features, abnormalities of the palate, congenital cardiac malformations, hypocalcemia secondary to hypoparathyroidism, immune deficiency due to a small or absent thymus, and learning difficulties. The following syndromes are now considered part of the 22q11.2DS:

  • Velocardiofacial syndrome (VCFS, or Shprintzen syndrome)

  • Conotruncal anomaly face (CTAF) syndrome

  • Cayler syndrome

Conditions with overlapping features are as follows:

  • Opitz-G/BBB syndrome

  • CHARGE syndrome (coloboma [eye], heart anomaly, atresia [choanal], retardation [mental and growth], genital anomaly, ear anomaly): Mutations in the chromodomain helicase DNA-binding protein-7 (CHD7) gene cause CHARGE syndrome

  • Chromosome 10p13-p14 deletion (formerly referred to as DiGeorge syndrome type 2); patients with other chromosomal anomalies, such as those with deletion of 4q, 10p, or 17p

  • Severe combined immunodeficiency

  • Alagille syndrome

  • VACTER or VACTERAL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal abnormalities, limb abnormalities) association (or Goldenhar syndrome)

  • TBX1 gene mutation without the 22q11.2 deletion

  • Smith-Lemli-Opitz syndrome

  • Prenatal exposure to isotretinoins

  • Diabetic embryopathy