Symptoms of DiGeorge's syndrome

List of symptoms of DiGeorge's syndrome:

The list of signs and symptoms mentioned in various sources for DiGeorge's syndrome includes the 13 symptoms listed below:

• Immune deficiency
• Recurrent infections
• Underdeveloped thymus gland
• Lack of T-cells
• Congenital heart disease
  • Heart murmur
  • Heart failure
• Underdeveloped parathyroid glands
• Characteristic facial features
  • Underdeveloped chin
  • Downward slanting eyes
  • Misshapen ear lobes
• Convulsions

Note that DiGeorge's syndrome symptoms usually refers to various symptoms known to a patient, but the phrase DiGeorge's syndrome signs may refer to those signs only noticable by a doctor.

More ways to research these symptoms: To research other symptoms use the symptom center, or to research causes of more than one symptom in combination, try our multi-symptom search.

Research More About DiGeorge's syndrome

Do I have DiGeorge's syndrome?

• DiGeorge's syndrome: Introduction
• DiGeorge's syndrome: Diagnostic Testing to confirm diagnosis
• Treatments for DiGeorge's syndrome
• More about DiGeorge's syndrome

More about symptoms of DiGeorge's syndrome:

More information about symptoms of DiGeorge's syndrome and related conditions:

• Tests to determine if these are the symptoms of DiGeorge's syndrome
• Symptoms that may be caused by complications of DiGeorge's syndrome

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.

• Characteristic facial features - see all causes of Facial feature symptoms
• Congenital heart disease - see all causes of Congenital heart disease
• Convulsions - see all causes of Convulsions
• Downward slanting eyes - see all causes of Eye symptoms
• Heart failure - see all causes of Heart failure
• Heart murmur - see all causes of Additional Heart Sounds
• Immune deficiency - see all causes of Immune deficiency
• Lack of T-cells - see all causes of Immune symptoms
• Misshapen ear lobes - see all causes of Ear shapes
• Recurrent infections - see all causes of Recurrent infections
• Underdeveloped chin - see all causes of Developmental problems
• Underdeveloped parathyroid glands - see all causes of Thyroid symptoms
• Underdeveloped thymus gland - see all causes of Immune symptoms

Medical Books Online about DiGeorge's syndrome

Medical Books Excerpts Excerpts of published medical book chapters related to DiGeorge's syndrome are available from published medical books for more detailed information about DiGeorge's syndrome.

Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.

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Symptoms of DiGeorge's 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's syndrome.

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.

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Pharyngitis: Signs and symptoms
(Professional Guide to Diseases (Eighth Edition))

Pharyngitis produces a sore throat and slight difficulty in swallowing. Swallowing saliva is usually more painful than swallowing food. Pharyngitis may also cause the sensation of a lump in the throat as well as a constant, aggravating urge to swallow. Associated features may include mild fever, headache, muscle and joint pain, coryza, and rhinorrhea. Uncomplicated pharyngitis usually subsides in 3 to 10 days.

PEDIATRIC TIP More than 90% of cases of sore throat and fever in children are of viral origin. Associated symptoms usually include runny nose and nonproductive cough.

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Pharyngitis: Signs and symptoms
(Handbook of Diseases)

Pharyngitis produces a sore throat and slight difficulty in swallowing. Swallowing saliva is usually more painful than swallowing food. Pharyngitis may also cause the sensation of a lump in the throat as well as a constant, aggravating urge to swallow. Associated features include mild fever, headache, muscle and joint pain, coryza, and rhinorrhea. Uncomplicated pharyngitis usually subsides in 3 to 10 days. Some severe forms such as severe mononucleosis-pharyngitis may cause airway obstruction.

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DiGeorge's syndrome as a Cause of Symptoms or Medical Conditions

When considering symptoms of DiGeorge's syndrome, it is also important to consider DiGeorge's syndrome as a possible cause of other medical conditions. The Disease Database lists the following medical conditions that DiGeorge's syndrome may cause:

• Cardiac valve disease
• Hypertelorism, ocular
• Hypoparathyroidism
• Hypothyroidism
• Immune deficiency
• Micrognathia
• Ventricular septal defect

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:

• Diagnostic Testing for a Diagnosis of DiGeorge's syndrome
• More about DiGeorge's syndrome
• Online Diagnosis
• Self Diagnosis Pitfalls
• Pitfalls of Online Diagnosis
• Symptoms of the Silent Killer Diseases
• Lesser known silent killer diseases
• Books on signs and symptoms

Full list of premium articles on symptoms and diagnosis

About signs and symptoms of DiGeorge's syndrome:

The symptom information on this page attempts to provide a list of some possible signs and symptoms of DiGeorge's syndrome. This signs and symptoms information for DiGeorge's syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of DiGeorge's syndrome signs or DiGeorge's syndrome symptoms. Furthermore, signs and symptoms of DiGeorge's 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's syndrome symptoms.