You'll find hundreds of files on cleft lip, cleft palate here on widesmiles.org.
This one is about: DiGeorge Syndrome
(c) 1997 Wide Smiles
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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:
http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?188400
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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
http://www.icondata.com/health/pedbase/files/DIGEORGE.HTM
(the following is the complete page, no other info on it available here)
DEFINITION:
A disorder characterized by injury to a developmental field affecting the development of pharyngeal pouches resulting in cardiac, facial, immune, and parathyroid anomalies.
EPIDEMIOLOGY:
incidence: ?
age of onset:
newborn (neonatal hypocalcemia)
risk factors:
familial - autosomal recessive
chrom.#: 22q11
gene: ?
M = F
PATHOGENESIS:
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
CLINICAL FEATURES:
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
VSD
2. Facial Manifestations
hypertelorism
down-slanting eyes
low-set posterior angulated auricles
high-arched palate
bifid
uvula
fishmouth deformity
micrognathia
3. Endocrine Manifestations
frequently the initial clinical presentation
hypoparathyroidism
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
INVESTIGATIONS:
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
MANAGEMENT:
1. Supportive
correct hypocalcemia
avoid fresh blood transfusions
due to association with fatal
GVHD
2. Surgery
correct cardiac lesions
transplantation
thymus - benefits only some
bone marrow - experimental
-----------
found in NORD database: [National Organization for Rare Disorders, Inc.]
DIGEORGE SYNDROM
http://www.stepstn.com/nord/rdb_sum/74.htm
Synonyms
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
DGS
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.
Resources:
[note I did not have time to click on these and get phone numbers, visit the web
page http://www.stepstn.com/nord/rdb_sum/74.htm
]
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