DiGeorge Syndrome

Published on 27/02/2015 by admin

Last modified 27/02/2015

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24. DiGeorge Syndrome

Definition

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.

Incidence

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.

Etiology

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

DiGeorge Syndrome. Facial anomalies associated with DiGeorge syndrome. Note the wide-set eyes, low-set ears, and shortened structure of the upper lip.