A microdeletion in 22q11.2 can result in a heterogenous group of disorders which previously went by several syndrome names.


Includes: DeGeorge Syndrome (defect in the fourth branchial arch and derivatives of the third and fourth pharyngeal pouches), Velo-cardio-facial Syndrome, Shprintzen Syndrome, Conotruncal Anomaly Face Syndrome, Caylor Cardiofacial Syndrome, Autosomal Dominant Opitz G/BBB Syndrome.


Inheritance: autosomal dominant or de novo deletion or translocation


Clinical features - varying combinations of the following:

(1) congenital heart disease, often a conotruncal malformation

(2) abnormalities of the palate

(3) facial defects

(4) learning disability with reduced intelligence

(5) immunodeficiency, typically associated with thymic hypoplasia

(6) hypocalcemia secondary to hypoparathyroidism

(7) feeding difficulties

(8) renal anomalies

(9) conductive and/or sensorineural hearing loss

(10) laryngotracheoesophageal anomalies

(11) growth hormone deficiency with short stature

(12) autoimmune disorder

(13) seizures

(14) skeletal anomalies, with hyperextensible hands and fingers

(15) psychiatric disorders


Cardiovascular abnormalities:

(1) tetralogy of Fallot

(2) interrupted aortic arch, right aortic arch

(3) ventricular septal defect (VSD)

(4) truncus arteriosus

(5) aberrant left subclavian artery

(6) atrial septal defect

(7) abnormalities of the carotid arteries


Palatal abnormalities:

(1) velopharyngeal incompetence

(2) submucosal cleft palate

(3) cleft palate with or without cleft lip

(4) bifid uvula


Facial features:

(1) prominent nose with squared nasal root

(2) abundant scalp hair

(3) deficient malar region

(4) long face

(5) chin deficiency with retruded mandible

(6) microcephaly

(7) ocular abnormality (hooding of upper eyelid, ptosis, strabismus, other)


Diagnostic testing:

(1) FISH at the DiGeorge Chromosome Region (DGCR)

(2) if FISH negative, variant deletions in the DGCR


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