DiGeorge syndrome
DiGeorge syndrome: Introduction
DiGeorge syndrome:
DiGeorge syndrome is a rare congenital (i.e. present at birth) disease whose symptoms vary greatly between individuals but commonly include a history of recurrent ... more about DiGeorge syndrome.
DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
More detailed information about the symptoms,
causes, and treatments of DiGeorge syndrome is available below.
Symptoms of DiGeorge syndrome
See full list of 53
symptoms of DiGeorge syndrome
DiGeorge syndrome: Complications
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Disease Topics Related To DiGeorge syndrome
Research the causes of these diseases that are similar to, or related to, DiGeorge syndrome:
Medical Textbooks Online about DiGeorge syndrome
Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
Less Common Symptoms of DiGeorge syndrome
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occasional symptoms of DiGeorge syndrome
Wrongly Diagnosed with DiGeorge syndrome?
Causes of DiGeorge syndrome
Read more about causes of DiGeorge syndrome.
More information about causes of DiGeorge syndrome:
Treatments for DiGeorge syndrome
- Calcium supplement, 1,25-cholecalciferol supplement
- Thymus cell transplant may be warranted in severe cases
- Speech therapy
- Educational support
- Surgery for heart problems if required
- more treatments...»
Read more about treatments for DiGeorge syndrome
News Archives for DiGeorge syndrome
Medical news articles related to DiGeorge syndrome include:
Source: HealthDay News
Evidence Based Medicine Research for DiGeorge syndrome
Medical research articles related to DiGeorge syndrome include:
Click here to find more evidence-based articles on the TRIP Database
Videos for DiGeorge syndrome
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See full list of 4 related videos
Reseach about DiGeorge syndrome
Visit our research pages for current research about DiGeorge syndrome treatments.
Clinical Trials for DiGeorge syndrome
The US based website ClinicalTrials.gov lists information on both federally
and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for DiGeorge syndrome include:
See full list of 7
Clinical Trials for DiGeorge syndrome
DiGeorge syndrome: Broader Related Topics
Types of DiGeorge syndrome
Stories from Users Related to DiGeorge syndrome
User Interactive Forums
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Article Excerpts about DiGeorge syndrome
DiGeorge syndrome is a rare congenital (i.e. present at birth) disease whose symptoms vary greatly between individuals but commonly include a history of recurrent infection, heart defects, and characteristic facial features.
(Source: Genes and Disease by the National Center for Biotechnology)
Definitions of DiGeorge syndrome:
DiGeorge syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that DiGeorge syndrome, or a subtype of DiGeorge syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list DiGeorge syndrome as a "rare disease".
Source - Orphanet
Contents for DiGeorge syndrome:
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