Vcfs

Incidence

 * VCFS: 1/4,000 - 1/6,000
 * DiGeorge: 1/3,000 - 1/5,000

Molecular Etiology

 * VCFS= 22q11; DiGeorge = 22q11.2, 10p13-14 deletion
 * 93% de novo
 * 7% inherited

Molecular Diagnosis

 * Karyotype Sensitivity = ~30%
 * FISH
 * DiGeorge Sensitivity = 90%<
 * VCFS Sensitivity = 85%<

Associated Birth Defects

 * Cardiac Defects = 85%
 * Ventricular Septal Defect
 * Cleft Palate
 * Velopharyngeal Insufficiency
 * DiGeorge = Renal Dysplasia

Craniofacial Features

 * upslanting eyes
 * rectangular nose
 * long face
 * midface hypoplasia
 * micrognathia
 * Pierre-Robin Sequence
 * microcephaly = 40-50%

Neurological

 * Psychiatric Disorders (10-15%)
 * Schizophrenia


 * Brain Abnormalities; Polymicrogyria
 * Learning Disabilities

Sensorial

 * DiGeorge = Hearing Loss

Immune

 * Variable immune defects
 * DiGeorge = T-Cell Deficiency

Endocrine/Growth

 * hypocalcemia = 20%
 * DiGeorge= hypoparathyroidism