Symptoms of DiGeorge syndrome
Symptoms of DiGeorge syndrome
The list of signs and symptoms mentioned in various sources
for DiGeorge syndrome includes the 53
symptoms listed below:
Research symptoms & diagnosis of DiGeorge syndrome:
DiGeorge syndrome: Complications
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DiGeorge syndrome Symptoms: Book Excerpts
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Do I have DiGeorge syndrome?
Less Common Symptoms of DiGeorge syndrome:
Ocassionally other symptoms may also present themselves as symptoms of DiGeorge syndrome.
29
of the more common ones are included in the list below:
More about symptoms of DiGeorge syndrome:
More information about symptoms of DiGeorge syndrome and related conditions:
Other Possible Causes of these Symptoms
Click on any of the symptoms below to see a full list
of other causes including diseases, medical conditions, toxins, drug interactions,
or drug side effect causes of that symptom.
Medical Books Online about DiGeorge syndrome
Medical Books Excerpts
Excerpts of published medical book chapters related to DiGeorge syndrome
are available from published medical books
for more detailed information about DiGeorge syndrome.
Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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Symptoms of DiGeorge syndrome: Online Medical Books
16 MEDICAL BOOKS ONLINE!
Review excerpts from medical books online, free, without registration,
for more information about the symptoms of DiGeorge syndrome.
Calcium imbalance:
Signs and symptoms
(Professional Guide to Diseases (Eighth Edition))
Calcium deficit causes nerve fiber irritability and repetitive muscle spasms. Consequently, characteristic symptoms of hypocalcemia include perioral paresthesia, twitching, carpopedal spasm, tetany, seizures and, possibly, cardiac arrhythmias. Chvostek’s sign and Trousseau’s sign are reliable indicators of hypocalcemia. (See Trousseau’s sign. Also see Chvostek’s sign, page 918.)
Clinical effects of hypercalcemia include muscle weakness, decreased muscle tone, lethargy, anorexia, constipation, nausea, vomiting, dehydration, polydipsia, and polyuria. Severe hypercalcemia (serum levels that exceed 15 mg/dl) may produce cardiac arrhythmias and, eventually, coma.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
DiGeorge syndrome:
Signs and symptoms
(Professional Guide to Diseases (Eighth Edition))
Symptoms are usually obvious at birth or shortly thereafter. An infant with DiGeorge syndrome may have low-set prominent ears, notched ear pinnae, a mouth without the usual bow-shaped lip, an undersized jaw, and abnormally wide-set eyes (hypertelorism) that are low-set and posteriorly angulated. Additionally, an infant may have a bifid uvula and a high, arched palate. Congenital heart anomalies are common. Cardiovascular abnormalities include great blood vessel anomalies (these may also develop soon after birth) and tetralogy of Fallot.
An infant with thymic hypoplasia (rather than aplasia) may experience a spontaneous return of cell-mediated immunity but can develop severe T-cell deficiencies later in life. This allows exaggerated susceptibility to viral, fungal, or bacterial infections, which may be overwhelming. Hypoparathyroidism, usually associated with DiGeorge syndrome, typically causes tetany, hyperphosphatemia, and hypocalcemia. Hypocalcemia (calcium levels less than 7 mg/dl) develops early and is unusually resistant to treatment. It can lead to tetany, seizures, central nervous system damage, and early heart failure.
Rare cases of partial immunoglobulin (Ig) A deficiency have been linked to chromosome 1 and deletions of the IgA1 or IgA2 genes. Alterations in chromosome 6 suggest altered major histocompatibility complex, which is reflected in decreased T-cell responses. Aberrations in chromosome 18 are linked to facial abnormalities, nystagmus, hypotonia, atretic or stenotic ear canals, hearing loss, and mental retardation.
» READ BOOK EXCERPT ONLINE »
Source: Professional Guide to Diseases (Eighth Edition), 2005
Calcium imbalance:
Signs and symptoms
(Handbook of Diseases)
Indications of calcium imbalance depend on the type of imbalance. (See Signs and symptoms of calcium imbalance.)
Hypocalcemia
A lack of calcium causes nerve fiber irritability and repetitive muscle spasms. Consequently, characteristic signs and symptoms of hypocalcemia include perioral paresthesia, twitching, carpopedal spasm, tetany, seizures and, possibly, cardiac arrhythmias. Although Chvostek’s and Trousseau’s signs are reliable indicators of hypocalcemia, they aren’t specific.
Hypercalcemia
Signs and symptoms of hypercalcemia include muscle weakness, decreased muscle tone, lethargy, anorexia, constipation, nausea, vomiting, dehydration, polydipsia, and polyuria. When calcium levels are greater than 3.2 mmol/L (13 mg/dL), calcification in kidneys, skin, vessels, lungs, heart, and stomach occurs and renal insufficiency may develop, especially if blood phosphate levels are normal or elevated due to impaired renal function. Severe hypercalcemia (serum levels that exceed 4.5 mmol/L or greater than 18 mg/dL) may produce cardiac arrhythmias and, eventually, coma.
» READ BOOK EXCERPT ONLINE »
Source: Handbook of Diseases, 2003
Article Excerpts About Symptoms of DiGeorge syndrome:
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)
DiGeorge syndrome as a symptom:
For a more detailed analysis of DiGeorge syndrome as a symptom, including causes, drug side effect causes, and drug interaction causes, please see our Symptom Center information for DiGeorge syndrome.
Medical articles and books on symptoms:
These general reference articles may be of interest
in relation to medical signs and symptoms of disease in general:
Full list of premium articles on symptoms and diagnosis
About signs and symptoms of DiGeorge syndrome:
The symptom information on this page
attempts to provide a list of some possible signs and symptoms of DiGeorge syndrome.
This signs and symptoms information for DiGeorge syndrome has been gathered from various sources,
may not be fully accurate,
and may not be the full list of DiGeorge syndrome signs or DiGeorge syndrome symptoms.
Furthermore, signs and symptoms of DiGeorge syndrome may vary on an individual basis for each patient.
Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they
are indeed DiGeorge syndrome symptoms.
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Diagnostic Tests for DiGeorge syndrome
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