Signs and symptoms of 22q11.2 deletion syndrome - Different persons exhibit different symptoms. Severity of symptoms is not the same. Symptoms are very mild in infancy and go unnoticed. 22q11.2 deletion syndrome in such cases is diagnosed only much later.
Signs and Symptoms of 22q11.2 Deletion Syndrome
New York (USA), June 16, 2013
22q11.2 Deletion Syndrome’s Signs and Symptoms
There are numerous signs and symptoms of 22q11.2 deletion syndrome. Different persons exhibit different symptoms. Severity of symptoms is not the same. Some are very apparent while some surface later in life. Often, symptoms are very mild in infancy and go unnoticed. 22q11.2 deletion syndrome in such cases is diagnosed only much later.
Common signs and symptoms include:
Congenital Heart Defects
This is extremely common in deletion syndrome and is present across all ages. Large vessels coming out of heart are affected leading to conotruncal heart defects and malformations like ventricular septal defect, interrupted aortic arch, tetralogy of Fallot, and persistent truncus arteriosus. These defects normally start right at the time of birth.
Palate Abnormalities
Cleft palate and palatal abnormalities leading to velopharyngeal incompetence (VPI) cause problems in speech and learning. Speech difficulties could be mild or severe. Learning is delayed.
Skeletal Abnormalities
Typical facial features of deletion syndrome include a long face, small chin and mouth, flat cheeks, small jaw, swollen nose and square nasal tip, large, narrow mouth, non-defined eyes with hooded eyelids, small, low-set ears with abnormal folds and hearing problems, short stature, and an overall asymmetric facial appearance when crying.
Autoimmune Disorders
Diseases like inflammatory bowel disease, juvenile rheumatoid arthritis, and haemolytic anemia and similar others occur commonly with deletion syndrome. Nonetheless, these infections are not life-threatening. These immune disorders are primarily due to reduced T cell numbers.
Bluish Skin
Skin of children with deletion syndrome turns blue due to poor circulation of oxygen-rich blood.
Feeding Difficulties
Babies are unable to feed properly and often suffer from spasms or twitching around mouth, throat, and hands. Infant milestones like rolling over, sitting up, and standing are remarkably delayed. Babies or children tire easily and do not gain necessary weight.
Anxiety
Poor coordination levels, communication problems, developmental delays in speech and growth often cause depression and anxiety in elders or even children during their growing years.
Other Symptoms of 22q11.2 Deletion Syndrome
Other symptoms include kidney problems due to malformed or missing kidney, chronic constipation, and low calcium levels in blood.
22q11.2 Deletion Syndrome – Definition and Diagnosis
Definition and Diagnosis of 22q11.2 Deletion Syndrome
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Causes and Evaluation of 22q11.2 Deletion Syndrome
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Diagnostic Tests and Procedures for 22q11.2 Deletion Syndrome
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Treatments and Medications for 22q11.2 Deletion Syndrome
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Clinical Trials and Medical Research Studies on 22q11.2 Deletion Syndrome
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22q11.2 Deletion Syndrome – Prevention, Treatment, and Remedies
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