DiGeorge-anomaly

DiGeorge anomaly is part of a rare congenital abnormality that is the result of defects during early fetal developmental. These defects occur in areas known as the 3rd and 4th pharyngeal pouches, which later develop into the thymus and parathyroid glands, heart and other important structures. These defects are associated with a chromosome abnormality called "22q11 chromosome deletion".

Alternative names

Hypoplasia of thymus and parathyroids

Third and fourth pharyngeal pouch syndrome

DiGeorge syndrome chromosome region; DGCR

DiGeorge syndrome

Takao VCF syndrome

Conotruncal anomaly face syndrome

CATCH-22

Classification

  • Other well-defined immunodeficiency syndromes

Inheritance

Autosomal dominant

OMIM

#188400 DiGeorge syndrome; DGS

#192430 Velocardiofacial syndrome

*602054 T-BOX 1; TBX1

Cross references

Incidence

1: 4000-5000 live births.