Sarah+J.



The name velocardiofacial comes from the Latin words "velum" meaning palate, "cardia" meaning heart, and "facies" having to do with the face. DiGeorge is a congenital immunodeficiency. It is most oftenly characterized by abnormal faces, congenital heart defects, and hypoparathyroidism with hypocalcemia. It can also be distinguished by cognitive, behavorial, and psychiatric problems, and increased vulnerability to infections. Kidney problems, leg pains, and learning difficulties are also common traits in DiGeorge patients. || ||
 * **Other names:** DiGeorge Anomaly, Congenital Thymic Aplasia, DGS, Hypoplasia of Thymus and Parathyroids, Third and Fourth Pharyngeal Pouch Syndrome, DiGeorge Syndrome Chromosome Region, Takao VCF Syndrome, DGCR, Catch 22, 22q11.2 Deletion Syndrome, DiGeorge Anomaly, DGA, Microdeletion 22q11, Velocardiofacial Syndrome


 * [[image:http://www.ncbi.nlm.nih.gov/books/bookres.fcgi/gnd/22chr.gif width="287" height="142"]][[image:http://www.iitk.ac.in/infocell/Archive/dirnov3/scienc3.jpg width="302" height="189"]] || DiGeorge Syndrome can be inherited by children whose parents are carriers of the disease. It can be passed on autusomal dominantly, or autosomal recessively. The cause of DiGeorge Syndrome is the deletion of the 22nd chromosome. Chromosome 22 contians over 800 genes, and 40 million base pairs.


 * Mode of Inheritance**: Autosomal Dominant

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**Description of Disorder** Recurrent Infections Underdeveloped Thymus Gland Lack of T-Cells Congenital Heart Disease Heart Murmur Heart Failure Underdeveloped Parathyroid Glands Characteristic Facial Features Underdeveloped Chin Downward Slanting Eyes Misshapen Ear Lobes Convulsions || media type="youtube" key="y2wF6hwAP8U" height="344" width="425"media type="youtube" key="ljolb_QAcW0" height="344" width="425" The defect in DiGeorge Syndrome is located within the 22nd chromosome. Part of this chromosome never develops. This syndrome affects victims both physically and psychologically. One of every 4, 000 babies is born with DiGeorge Syndrome. The mortality rate for this syndrome is 55% for one month infants, and 86% for 6 month infants. This is due to congenital heart disease. Living a "normal" life for someone with this disorder is determined by the types of problems they are experiencing. It is not more commonly found in certain groups of people, such as particular ethnic groups or sex. Genetic testing is available and prenatal testing of the 22q11.2 deletion syndrome. This syndrome was first diagnosed in 1978.
 * = **Symptoms of DiGeorge Syndrome** Immune Deficiency

There is no way to repair chromosome defects; therefore, DiGeorge Syndrome is not curable. Clinical trials are being performed to support this syndrome.
 * Treatment**

**Support Groups** DiGeorge Syndrome Support Group eMedicine: DiGeorge Syndrome Family Village: DiGeorge Syndrome Health A to Z: DiGeorge Syndrome National Library of Medicine: DGS



**Refrences** "Chromosome 22." __Genes and Disease__. 1998. NCBI. 7 Apr. 2009 . "Cytogenetic finding:." __WSLH__. 2008. 7 Apr. 2009 . "Diabetes & Other Endocrine and Metabolic Disorders." __Health System__. 2008. Univertsity of Virginia. 7 Apr. 2009 .

"DiGeorge Syndrome." __Best of the Web__. 2009. BOTW. 7 Apr. 2009 .

"DiGeorge Syndrome." __Children's Medical Center__. 2009. Children's Medical Center. 7 Apr. 2009 .

"DiGeorge Syndrome." __Genes and Disease__. 1998. NCBI. 7 Apr. 2009 .

Win, Patrick Htain. "DiGeorge Syndrome." __eMedicine__. 2009. Medscape. 7 Apr. 2009 .