22q11.2 deletion syndrome, rare (NIH) natural cures |
22q11.2 deletion syndrome, rare (NIH) Definition
The disorder known as 22q11.2 deletion syndrome is caused by the deficiency or deletion of a tiny piece of chromosome 22. This deletion happens near the midsection of a chromosome located at q 11.2.
22q11.2 deletion syndrome, rare (NIH) Prevalence
There are various estimates when it comes to the prevalence of the syndrome. In a study based in Sweden, the annual occurrence was at 14.1 for every 100,000 births. This is based on a study conducted by CDC or the Centers for Disease Control with about 6,000 subjects from different ethnic backgrounds.
22q11.2 deletion syndrome, rare (NIH) Characteristics and Features
This syndrome can affect many human body parts. The most common symptoms include defects of the heart (often present at birth); cleft palate and other defects of the palate; even facial defects (an example is a patient with 'crying face'). Other diseases could occur such as kidney disorders or abnormalities, seizures caused by low calcium levels in the blood (which is also known as hypocalcemia occurring in about 17-60% cases), and hearing loss. Most of the patients of this syndrome also acquire autoimmune diseases such as Grave's disease or rheumatoid arthritis. It is also possible to acquire skeletal disorders such as short stature or spinal bone abnormalities. Abnormalities on the patient's eyes can also occur: examples include ptosis, upper lid hooding, lower lid hooding, epicanthanl folds, and distichiasis. Other findings include embryotoxon, sclerocornea, corneal nerve isolation, deep iris crypts, small optic nerves and tilted discs. Children who are afflicted with this syndrome have delays on their growth and development. It is also possible that they will have learning disabilities, and worse, it could develop into mental illnesses like depression, bipolar disorder, anxiety and schizophrenia.
22q11.2 deletion syndrome, rare (NIH) Management
Patients with congenital heart defects caused by 22q11.2 deletion syndrome can be treated in the same manner as regular patients. Those with feeding complexities are given spoon placement modifications; acid blockade is used as a treatment for gastric reflux on the esophagus; postural therapy for those with postural problems; and prokinetic agents. Craniofacial teams can take care of abnormalities of the palate while MRA or magnetic resonance angiography may help in identifying risks during surgical procedures. Genetic counseling and pre-natal testing are also advisable. Genetic clinics are great sources of help and information among patients and their supportive families. These clinics often discuss the history, inheritance mode, treatment and the risks to all other members of the family. There are also many support groups that have been established to help the affected individuals and their families.
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22q11.2 deletion syndrome, rare (NIH) by state |
22q11.2 deletion syndrome, rare (NIH) in Alabama
22q11.2 deletion syndrome, rare (NIH) in Alaska
22q11.2 deletion syndrome, rare (NIH) in Arizona
22q11.2 deletion syndrome, rare (NIH) in Arkansas
22q11.2 deletion syndrome, rare (NIH) in Armed Forces
22q11.2 deletion syndrome, rare (NIH) in California
22q11.2 deletion syndrome, rare (NIH) in Colorado
22q11.2 deletion syndrome, rare (NIH) in Connecticut
22q11.2 deletion syndrome, rare (NIH) in Delaware
22q11.2 deletion syndrome, rare (NIH) in District of Columbia
22q11.2 deletion syndrome, rare (NIH) in Florida
22q11.2 deletion syndrome, rare (NIH) in Georgia
22q11.2 deletion syndrome, rare (NIH) in Hawaii
22q11.2 deletion syndrome, rare (NIH) in Idaho
22q11.2 deletion syndrome, rare (NIH) in Illinois
22q11.2 deletion syndrome, rare (NIH) in Indiana
22q11.2 deletion syndrome, rare (NIH) in Iowa
22q11.2 deletion syndrome, rare (NIH) in Kansas
22q11.2 deletion syndrome, rare (NIH) in Kentucky
22q11.2 deletion syndrome, rare (NIH) in Louisiana
22q11.2 deletion syndrome, rare (NIH) in Maine
22q11.2 deletion syndrome, rare (NIH) in Maryland
22q11.2 deletion syndrome, rare (NIH) in Massachusetts
22q11.2 deletion syndrome, rare (NIH) in Michigan
22q11.2 deletion syndrome, rare (NIH) in Minnesota
22q11.2 deletion syndrome, rare (NIH) in Mississippi
22q11.2 deletion syndrome, rare (NIH) in Missouri
22q11.2 deletion syndrome, rare (NIH) in Montana
22q11.2 deletion syndrome, rare (NIH) in Nebraska
22q11.2 deletion syndrome, rare (NIH) in Nevada
22q11.2 deletion syndrome, rare (NIH) in New Hampshire
22q11.2 deletion syndrome, rare (NIH) in New Jersey
22q11.2 deletion syndrome, rare (NIH) in New Mexico
22q11.2 deletion syndrome, rare (NIH) in New York
22q11.2 deletion syndrome, rare (NIH) in North Carolina
22q11.2 deletion syndrome, rare (NIH) in North Dakota
22q11.2 deletion syndrome, rare (NIH) in Ohio
22q11.2 deletion syndrome, rare (NIH) in Oklahoma
22q11.2 deletion syndrome, rare (NIH) in Oregon
22q11.2 deletion syndrome, rare (NIH) in Pennsylvania
22q11.2 deletion syndrome, rare (NIH) in Puerto Rico
22q11.2 deletion syndrome, rare (NIH) in Rhode Island
22q11.2 deletion syndrome, rare (NIH) in South Carolina
22q11.2 deletion syndrome, rare (NIH) in South Dakota
22q11.2 deletion syndrome, rare (NIH) in Tennessee
22q11.2 deletion syndrome, rare (NIH) in Texas
22q11.2 deletion syndrome, rare (NIH) in Utah
22q11.2 deletion syndrome, rare (NIH) in Vermont
22q11.2 deletion syndrome, rare (NIH) in Virginia
22q11.2 deletion syndrome, rare (NIH) in Washington
22q11.2 deletion syndrome, rare (NIH) in West Virginia
22q11.2 deletion syndrome, rare (NIH) in Wisconsin
22q11.2 deletion syndrome, rare (NIH) in Wyoming
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