DiGeorge syndrome
MIM.188400 22q11.2
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
Wurdak H, Ittner LM, Sommer L. DiGeorge syndrome and pharyngeal apparatus development. Bioessays. 2006 Nov;28(11):1078-86. PMID: 17041894
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