Friday, March 2, 2012

DiGeorge Syndrome In Children

DiGeorge syndrome in children is uncommon and is the effect an abnormality of chromosome 22, resulting in a absence of certain genes.  DiGeorge syndrome can be found by using a checklist of certain different signs and symptoms.  DiGeorge syndrome (also named congenital thymic hypoplasia, or third and fourth pharyngeal pouch syndrome) is a  birth defect  that can be effected by an  abnormal chromosome  and can affect the baby's immune system.

A child with DGS have a thymus gland that may be underdeveloped or even totally deleted.  Children who are slightly or severely ill at the time the vaccination is scheduled should probably wait until they are better.  Children with DiGeorge syndrome should not be around crowds or other places where they can get infection.

Genetic counseling and testing is a must for a woman with DiGeorge syndrome who becomes pregnant, because the DiGeorge syndrome in children can be detected prior to birth.  Genetic counseling is recommended for parents of children with DiGeorge syndrome because the disorder can be detected prior to birth.  Genetic counseling and testing is recommended for a person with    DiGeorge syndrome who becomes pregnant, because the disorder can be detected before to birth.
In no more than ten percent of cases, a human with VCFS inherits the deletion in chromosome 22 from a parent.  Ninety percent of people with total repair as a baby develop a progressively leaky pulmonary valve as the heart grows to its adult size but the valve does not.  Almost ten percent of children who devolop the features velo-cardio-facial syndrome do not usually have a deletion in the chromosome 22q11.

Immune deficiency of how bad, hypocalcemia (which may lead to seizures) and hypoparathyroidism are some of the leading features of DiGeorge in children, (although not of  Shprintzen syndrome which is characterized more by cleft palate and speech difficulties).  Immune deficiency is usually not the most common anomalies in VCFS, but the problem is usually the hardest to deal with for the effected person and their families.

The disorder in children is usually found  by identifying birth defects characteristic of complete DiGeorge, including heart defects, low levels of calcium, from the result of the missing parathyroid gland, esophageal abnormilities and facial defects such as low-set ears, wide-set eyes and a tiny jaw.  DiGeorge syndrome causes migration defects of  neural crest -derived tissues, particularly affecting development of the third and fourth  Branchial pouches. All of the SCID abnormalities lead to low T cells and many types of SCID are in common with impaired production of T cells. For more info you can check out the mayo-clinic. I also have another post on symptoms.  Keeping your house clean of dirt and mildew helps to stay healthy also.

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