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22q11.2 deletion syndrome

22q11.2 deletion syndrome: Introduction

22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans. More detailed information about the symptoms, causes, and treatments of 22q11.2 deletion syndrome is available below.

Symptoms of 22q11.2 deletion syndrome

Treatments for 22q11.2 deletion syndrome

  • Treatment varies depending on the type and severity of symptom that develop
  • Surgery may be needed to correct defects or abnormalities e.g. heart defects, facial abnormalities
  • Access to programs and services as required e.g. physical therapy, speech therapy, educational support, social, vocational and medical services
  • Various symptomatic and supportive measures as required
  • Patients with low blood calcium levels due to hypoparathyroidism will need to take calcium supplements and vitamin D for the rest of their life
  • more treatments...»

Home Diagnostic Testing

Home medical testing related to 22q11.2 deletion syndrome:

Wrongly Diagnosed with 22q11.2 deletion syndrome?

Causes of 22q11.2 deletion syndrome

Read more about causes of 22q11.2 deletion syndrome.

22q11.2 deletion syndrome: Undiagnosed Conditions

Commonly undiagnosed diseases in related medical categories:

Misdiagnosis and 22q11.2 deletion syndrome

Heart attacks can be undiagnosed: Although the most severe symptoms of heart attack are hard to miss, there are varying degrees of severity. It is altogether too common for...read more »

Heart attacks can be overdiagnosed: Although many people die from heart attacks, there are also many cases where people fear that they have a heart attack, but actually have something...read more »

Rare heart condition often undiagnosed: The rare heart condition called long QT syndrome can lead to episodes of palpitations and rapid heartbeat. In rare cases, this undiagnosed condition can be fatal. It...read more »

Heart attack can be over-diagnosed: Although heart attack is often undiagnosed, leading to fatality, it can also be over-diagnosed. People become concerned that a condition is a heart attack, whereas...read more »

Blood pressure cuffs misdiagnose hypertension in children: One known misdiagnosis issue with hyperension, arises in relation to the simple equipment used to test blood...read more »

Hypertension misdiagnosis common in children: Hypertension is often misdiagnosed in adults (see misdiagnosis of hypertension), but its misdiagnosis is even more likely in...read more »

22q11.2 deletion syndrome: Research Doctors & Specialists

Research related physicians and medical specialists:

Other doctor, physician and specialist research services:

Hospitals & Clinics: 22q11.2 deletion syndrome

Research quality ratings and patient safety measures for medical facilities in specialties related to 22q11.2 deletion syndrome:

Choosing the Best Hospital: More general information, not necessarily in relation to 22q11.2 deletion syndrome, on hospital performance and surgical care quality:

22q11.2 deletion syndrome: Rare Types

Rare types of diseases and disorders in related medical categories:

22q11.2 deletion syndrome: Animations

Prognosis for 22q11.2 deletion syndrome

Prognosis for 22q11.2 deletion syndrome: The prognosis varies depending on the type and severity of symptoms that develop - some people have so few symptoms that they are never diagnosed. Prompt diagnosis and appropriate treatment in more severe cases can improve prognosis and quality of life.

Statistics for 22q11.2 deletion syndrome

22q11.2 deletion syndrome: Broader Related Topics

User Interactive Forums

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Definitions of 22q11.2 deletion syndrome:

22q11.2 deletion syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that 22q11.2 deletion syndrome, or a subtype of 22q11.2 deletion syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Related 22q11.2 deletion syndrome Info

More information about 22q11.2 deletion syndrome

  1. 22q11.2 deletion syndrome: Introduction
  2. Symptoms
  3. Causes
  4. Treatments
  5. Misdiagnosis
  6. Home Testing
  7. Types
  8. Prognosis
 

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