DiGeorge Syndrome

Overview

Helpful information about DiGeorge Syndrome. To learn more about this topic, click the World Articles tab. To find experts on this topic, click the Find Experts tab. To find books and DVDs you can purchase, click the Books & DVDs tab.

Is a:

Disease or Syndrome

Definition:

Congenital syndrome characterized by a spectrum of malformations including the absence of the thymus and parathyroid glands resulting in T-cell immunodeficiency and hypocalcemia. Other features include defects in the outflow tract of the heart and craniofacial anomalies (velocardiofacial syndrome). Most cases result from a deletion of chromosome 22q11.2 or mutation in the tbx1 gene.

Synonyms:

Chromosome 22q11.2 Deletion Syndrome
Hypoplasia of Thymus and Parathyroids
Syndrome, DiGeorge
Syndrome, Velo-Cardio-Facial
Syndrome, Velocardiofacial
Velo Cardio Facial Syndrome
Velo-Cardio-Facial Syndrome
Velocardiofacial Syndrome

Broader Topics:

Narrower Topics:

None

Possibly Related Topics:

List of topics based on word similarity