Synopsis

 craniofacial anomalies

• micrognathia
• low-set ears
• abnormal folded pinna
• middle ear abnormalities
• hypertelorism
• short palpebral fissures
• blunted nose
• short philtrum
• high arched palate
• cleft palate
• bifid uvula

 thymic aplasia (thymic agenesis)
 parathyroid anomales

• parathyroid hypoplasia
• parathyroid agenesis (aparathyroid aplasia)

 accessory thyroid tissue

 cardiovascular anomalies

• ventricular septal defect
• patent ductus arteriosus
• conotruncal defects
  • interrupted aortic arch
  • transposition of the great arteries (#7801879#)
  • truncus arteriosus
  • tetralogy of Fallot
  • posterior malalignment type ventricular septal defect
  • anomalous origin of the left main pulmonary artery from the ascending aorta (#7778565#)
  • Right aortic arch

 vascular anomalies

• pulmonary arterial aneurysm
• left common carotid artery arising from the pulmonary artery (#8774335#)
• vascular disruptions
  • symbrachydactyly (#9457506#)
  • microgyria in the distribution of the middle cerebral artery (#9120232#)

 digestive

• esophageal atresia and tracheo-esophageal fistula (#12891520#)
• jejunal atresia
• abdominal lymphatic dysplasia (#10191431#)

 abnormal growth of the thyroid cartilage (#3822935#)
 laryngeal atresia

Associations

 hepatoblastoma (#14692228#)
 renal-cell carcinoma (#14692228#)

Etiology

 contiguous gene syndrome involving deletion of the DiGeorge syndrome chromosome region (DGCR) involving mutations in TUP-like enhancer of split 1 (TUPLE1) (MIM.600237) and DiGeorge critical region gene 2 (DGCR2) (MIM.600594)
 deletion of the 22q11.2 region
 germline mutation in the TBX1 gene (MIM.602054)

References

 Vitelli F, Baldini A. Generating and modifying DiGeorge syndrome-like phenotypes in model organisms: is there a common genetic pathway? Trends Genet. 2003 Nov;19(11):588-93. PMID: #14585606#

 Yamagishi H, Srivastava D. Unraveling the genetic and developmental mysteries of 22q11 deletion syndrome. Trends Mol Med. 2003 Sep;9(9):383-9. PMID: #13129704#

 Baldini A. DiGeorge syndrome: the use of model organisms to dissect complex genetics. Hum Mol Genet. 2002 Oct 1;11(20):2363-9. PMID: #12351571#

 Lindsay EA. Chromosomal microdeletions: dissecting del22q11 syndrome. Nat Rev Genet. 2001 Nov;2(11):858-68. PMID: #11715041#

 Botta A, Amati F, Novelli G. Causes of the phenotype-genotype dissociation in DiGeorge syndrome: clues from mouse models. Trends Genet. 2001 Oct;17(10):551-4. PMID: #11585644#

 Epstein JA. Developing models of DiGeorge syndrome. Trends Genet. 2001 Oct;17(10):S13-7. PMID: #11585671#

 Scambler PJ. The 22q11 deletion syndromes. Hum Mol Genet. 2000 Oct;9(16):2421-6. PMID: #11005797#