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
See full list of 34
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...»
See full list of 6
treatments for 22q11.2 deletion syndrome
Home Diagnostic Testing
Home medical testing related to 22q11.2 deletion syndrome:
- High Blood Pressure: Home Testing
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....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 milder.
Some of the conditions which may...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...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 pressure.
The "cuff" around the arm to measure 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 children.
Some of the symptoms of hypertension that...read more »
Read more about Misdiagnosis and 22q11.2 deletion syndrome
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:
Hospital & Clinic quality ratings »
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
More 22q11.2 deletion syndrome animations & videos
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.
More about prognosis of 22q11.2 deletion syndrome
Statistics for 22q11.2 deletion syndrome
22q11.2 deletion syndrome: Broader Related Topics
Types of 22q11.2 deletion syndrome
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)
Contents for 22q11.2 deletion syndrome: