Most patients with pediatric Diegeorg’s syndrome have a left heart outflow tract malformation. The facial features of pediatric Diegeorg’s syndrome include a long face, bulbous nasal tip and narrow nasal wings, cleft palate, flattened cheekbones, widened eye spacing, slanted eyes, low hanging ears with depressed ear circumference and underdeveloped ear whorl, and small jaw. The disease is caused by the underdevelopment or underdevelopment of the thymus (often with parathyroid glands) due to some causes (e.g. viral infection, poisoning) of the neural crests of the III and IV pharyngeal sacs in early gestation. DiGeorgia syndrome (DGS) is associated with chromosome 22q11 defects and should be considered as the sum of the most severe group of clinical disorders, abbreviated by the first letter of each word as “CATCH “22 syndrome, meaning Cardiac Defects, Facial Anomalies, Abnormal Thymus Development due to 22q11 deletion. Abnormal), Thymic, Cleft and Hypocalcemia. Causes of left heart outflow tract malformation: The disease is caused by the hypoplasia or underdevelopment of the thymus (often with parathyroid glands) due to some causes (e.g., viral infection, poisoning) that lead to impaired development of the neural crest of the III and IV pharyngeal sacs in early gestation. It is often associated with cardiovascular, maxillofacial, and ear malformations. It is likely to occur in children born to older parents, and some of the affected children suggest an association with chromosome 22q11 defects, mainly deletion of 22q11.2. DGS is a group of multiple malformation complexes including pharyngeal and palatal arches. The etiology is complex and possible factors are exposure to teratogenic agents and maternal diabetes mellitus. The majority of patients with DGS (90%) and cardiac malformations have a gene deletion at 22q11. The gene fragment at high risk of mutation or translocation is between D22S75 (N25) and GM00980, which is 200-300 kb in length, and the frequently mutated region is between D22S427 and D22S36. Another mutation-prone region is the distal end of FCF2. The exact causative or candidate mutant genes have not been defined so far. These candidate genes include N25 (associated with skeletal muscle and inclusion heavy chain gene CLTCL), DGCR/LAN/IDD, citrate transporter protein gene (CTP) and DGCR6. There are other chromosomal locus abnormalities in DGS, including haplogroups 10q13, 18q21 and 17p13, 9q diploidy and homozygous chromosome 18q.