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DiGeorge syndrome is a group of health problems that arise as a result of abnormalities in chromosomes. Children born with this condition can experience defects in the heart, cleft lip, developmental problems, and even death.
Cause DiGeorge syndrome
Normally, humans have 23 pairs of chromosomes, or the same as 46 copies. Meanwhile, DiGeorge syndrome caused by the loss of a tiny piece of chromosome number 22.
The missing piece usually comes from the center of the chromosome, at a location called q11.2. That is why this condition is often referred to as deletion syndrome 22q11.2.
This loss of chromosome fragments is a random event that can occur in the father's sperm cell, in the mother's egg, or as the fetus develops. In very rare cases, this condition can be passed from parent to child.
This genetic disorder affects almost all body systems with varying severity.
Some sufferers can grow to adulthood, but there are also those who experience severe complications that lead to death.
Signs DiGeorge syndrome
Most sufferers DiGeorge syndrome have a heart defect that was detectable at birth. However, there are also sufferers who only show symptoms when they are under five.
This syndrome has the following general characteristics:
- The effect of heart defects, namely the wheezing sound (murmur) of the heart and bluish skin color due to impaired blood circulation that carries oxygen.
- Different facial structures, for example the chin does not develop, the eyes are too wide apart, or the ears sticking down.
- Cleft lip or palate problems.
- Developmental disruption and delays in learning and speech.
- Digestive and respiratory disorders.
- Hormonal disorders due to insufficient gland size.
- Hearing problems due to frequent infections of the ear.
- Often attacked by infectious diseases.
- Weak body muscles.
Prevent and overcome DiGeorge syndrome
The only way to prevent it DiGeorge syndrome is through pre-pregnancy checks. If you have a history of this genetic disorder, consult your doctor first before undergoing pregnancy.
The doctor will perform blood tests to anticipate the possibility of genetic problems on the chromosomes of you and your partner.
The reason is, the risk of this genetic disorder can increase if the father and / or mother have a similar genetic disorder.
So far, there is no known cure DiGeorge syndrome. Children and adults who experience it need to undergo regular health monitoring to prevent health problems in the future.
People who have this syndrome usually need to undergo the following procedures:
- Periodic blood, heart, and hearing tests.
- Measurement of height and weight to monitor growth.
- Speech therapy for children who have speech impediments.
- Physiotherapy or the use of special shoes to treat movement problems.
- Assessment of children's learning abilities before starting school.
- Diet adjustments for sufferers who have cleft lip problems or eating disorders.
- Surgery to treat heart defects or cleft lip.
Cardiac disorders and consequent developmental barriers DiGeorge syndrome will get better with age. However, its effects on behavior patterns and mental health persist into adulthood.
Adults with this genetic disorder can live normally. The key is to undergo routine health monitoring so that health problems can be detected as early as possible.
