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This one is about: DiGeorge Syndrome

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Below are several references on DIGEORGE Syndrome:

You can find additional info here as well:

Digeorge Syndrome can be located at:

Information and Support for DiGeorge and Shprintzen Syndrome
Families (ISF DSF)
DiGeorge Syndrome
Shprintzen Syndrome
VeloCardioFacial Syndrome
22q11.2 Deletions
Address:  27859 Lassen Street; Castaic, CA  91384
Contact person:  Natalie Ward, President
Phone:  805-294-3623
Founded:  1992
Membership:  100 families


This is from the Pediatric Database (PEDBASE)
       Discipline: GEN
       Last Updated: 6/15/94

                          DIGEORGE ANOMALY

(the following is the complete page, no other info on it available here)


A disorder characterized by injury to a developmental field affecting the development of pharyngeal pouches resulting in cardiac, facial, immune, and parathyroid anomalies.


       incidence: ?
       age of onset:
              newborn (neonatal hypocalcemia)
       risk factors:
              familial - autosomal recessive
                    chrom.#: 22q11
                    gene: ?
              M = F


       1. Background

       "developmental fields are embryologically reactive units consisting of cells 
that develop with their primordia"(Nelsons) an injury to a developmental field by 
any of a multitude of factors may result in a limited range of abnormal phenotypes

       2. Genetic Defect

       injury to the cephalic neural crest cells by any cause (fetal 
alcohol syndrome, chromosomal abnormalities) in a genetically predisposed 
individual -> interrupts the development and differentiation of the 
pharyngeal pouches resulting in cardiac, facial, immune, and parathyroid 
anomalies  immune deficit  probably due to a thymic abnormality and is 
variable in severity  most patients have a minimal defect with normal 
immunity when the deficit includes T-helper cell function, immunoglobulin 
synthesis is absent


       1. Cardiac Manifestations

              1. Conotruncal Defects

                    interrupted aortic arch type B defect
                    right-sided aortic arch
                    persistent truncus arteriosus
                    aberrant left subclavian artery
                    right infundibular stenosis

       2. Facial Manifestations

              down-slanting eyes
              low-set posterior angulated auricles
              high-arched palate
              bifid uvula
              fishmouth deformity

       3. Endocrine Manifestations

              frequently the initial clinical presentation
              neonatal hypocalcemia +/- tetany and cataracts

       4. Immune Manifestations

          most patients have or will acquire normal immunity if T cell 
          function is compromised - increased incidence of fungal or 
          viral infections


       1. Serum

          CBC - normal lymphocytes
          decreased immunoglobulins (IgA and IgG) if abnormal T helper 
          cell function
          elevated IgE
          decreased hypothyroid hormone with hypocalcemia
          normal thyroid function tests

       2. Imaging Studies

              1. 2D Echo

                 imaging of cardiac defects


       1. Supportive

          correct hypocalcemia
          avoid fresh blood transfusions due to association with fatal 

       2. Surgery

          correct cardiac lesions
          thymus - benefits only some
          bone marrow - experimental

found in NORD database: [National Organization for Rare Disorders, Inc.]


It is possible that DiGeorge Syndrome may not be the name that you expected. Your physician may have given you another name for this disease. Please check the synonyms listed below to find other names for this specific disorder.

Congenital Absence of the Thymus and Parathyroids
Harrington Syndrome
Pharyngeal Pouch Syndrome
Third and Fourth Pharyngeal Pouch Syndrome
Thymic Agenesis
Thymic Aplasia, DiGeorge Type
Thymic Hypoplasia, DiGeorge Type
Thymus, Congenital, Aplasia

Abstract (General Discussion)
The information contained in the Rare Disease Database (RDB) is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you order the full text version of this report from NORD, you can contact the agencies listed in the Resources section for more detailed information and avenues to support. In addition, your personal physician may be able to provide details specific to your case.

DiGeorge Syndrome is a very rare group of congenital abnormalities that are the result of defects during early fetal developmental. These defects occur in areas known as the 3rd and 4th pharyngeal pouches which later develop into the thymus and parathyroid glands. Developmental abnormalities may also occur in the 4th branchial arch. Normally the thymus gland is located below the thyroid gland in the neck and front of the chest and is the primary gland of the lymphatic system which is necessary for the normal functioning of the immune system. The parathyroid glands, located on the sides of the thyroid gland, are responsible for the maintenance of normal levels of calcium in the blood. The thymus and parathyroid glands are missing or underdeveloped in children with DiGeorge Syndrome. The symptoms of this disorder vary greatly depending on the extent of the missing thymus and parathyroid tissue. The primary problem caused by DiGeorge Syndrome is repeated infections due to a diminished immune system.

[note I did not have time to click on these and get phone numbers, visit the web page ]

   833   DiGeorge, Angelo M. M.D.
         Temple University School of Medicine, Section of Endocrinology and Metabolism, Saint Christopher's Hospital for Children, Erie Avenue at Front Street, Philadelphia, PA 19134

   973   Gidding, Samuel S., M.D.
         Children's Memorial Hospital, Pediatrics/Nephrology, Mail #37, 2300 Children's Plaza, Chicago, IL 60614

   911   Greenberg, Frank, M.D.
         Baylor College of Medicine, Molecular Genetics, Texas Children's Hospital, Room 0154, 6621 Fannin Road, Houston, TX 77030

   271   Immune Deficiency Foundation
         25 W. Chesapeake Avenue, Suite 206, Towson, MD 21204

   309   Information & Support for DiGeorge & Shprintzen Syndrome Families, 27859 Lassen St., Castaic, CA 91384-3702

  1589   International Patient Organization for Primary Immunodeficencies--Web site

   972   Langman, Craig B., M.D.
         Children's Memorial hospital, Pediatrics/Nephrology, Mail #37, 2300 Children's Plaza, Chicago, IL 60614

    89   March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue, White Plains, NY 10605

  1006   NIH/National Institute of Child Health and Human Development 9000 Rockville Pike, Bethesda, MD 20892

   116   The Arc (a national organization on mental retardation)
         500 East Border Street, Suite 300, Arlington, TX 76010

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