DiGeorge Syndrome

Published on 27/02/2015 by admin

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Last modified 27/02/2015

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24. DiGeorge Syndrome


DiGeorge syndrome is a congenital disorder involving hypoplasia or aplasia of the thymus and parathyroid glands secondary to defective development of the third and fourth pharyngeal pouches.


DiGeorge syndrome occurs very sporadically. The prevalence is the subject of much debate; however, current estimates of the incidence range from 1:4000 to 1:6395. Male to female ratio is 1:1.


The anomaly results from deletion of the DiGeorge syndrome chromosome region (DGCR), represented as deletion on chromosome 22q11.2.
Conditions Associated with DiGeorge Syndrome

• 22q11 deletion syndromes
• Cayler syndrome
See Appendix G: Rare Syndroms.
• CHARGE syndrome (see box)
• Conotruncal anomaly face syndrome
• Opitz-GBBB syndrome
• Velocardiofacial syndrome
CHARGE Association

Coloboma of the iris, choroid, and/or microphthalmia
Heart defect
Atresia of the choanae
Retarded growth and development
Genitourinary abnormalities (cryptorchidism, microphallus, hydronephrosis)
Ear defects associated with deafness
B9780323045681100242/gr1.jpg is missing
DiGeorge Syndrome. Facial anomalies associated with DiGeorge syndrome. Note the wide-set eyes, low-set ears, and shortened structure of the upper lip.

Signs and Symptoms


• Aberrant right subclavian artery
• Right aortic arch
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