DiGeorge syndrome

Also known as: 22q11.2 deletion syndrome; velocardiofacial syndrome

Microdeletion with conotruncal heart defects, hypocalcemia, immune deficiency and palatal anomalies.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, neonates
Gene(s) involved: CRKL, HIRA, TBX1

Etiology & mechanism

Deletion of 22q11.2 including TBX1 causes pharyngeal arch developmental defects.

Gene(s) involved (3)

CRKLHIRATBX1

Symptoms & signs (9)

cleft palateconotruncal defectsdysmorphic facieshypocalcemialearning disabilitypsychiatric disordersrecurrent infectionsthymic hypoplasiavelopharyngeal insufficiency

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.