Prader-Willi Syndrome, a Rare Genetic Disorders
Prader-Willi syndrome is a rare genetic disorder that affects 1 in 25,000 children. Children who are born with this syndrome have a variety of neurological and developmental problems that continue into adulthood complex.
This condition can cause cognitive difficulties and behavioral disorders, weight problems, problems in controlling anger and difficulty in socializing.
Prader-Willi syndrome is usually associated with chromosome 15 and gene OCA2. Children with this syndrome will be born with a sickly, having a weak muscle control and body weight below normal at first.
Cause
Prader-Willi syndrome is caused by mutations of genes characterized by non-functioning of the brain hypothalamus and pituitary glands, causing hormone disruption.
Symptom
In the baby, Prader-Willi syndrome have symptoms as follows:
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The low muscle tone or muscle break
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Distinct facial features, almond-shaped eyes, narrowing of the head, thin upper lip and sucking difficulties.
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Growth failure
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The lack of eye coordination
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Lack of response to stimuli
Symptoms of Prader-Willi syndrome will usually be apparent at the age of 1 to 4 years. In early childhood, Prader-Willi syndrome have symptoms as follows:
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An insatiable appetite and are always hungry, so it can raise the weight fast
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The development of sex organs lags
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Growth and physical development of poor
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Learning disabilities
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Delayed motor development
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Difficulty speaking only able to speak normally after the age of 2 years
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behavior problems
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Sleep disorders
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Scoliosis (abnormal curvature of the spine)
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Nearsightedness (myopia)
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Lighter skin than other family members
Treatment
Growth hormone therapy can be done to stimulate growth, improve muscle function and reduce body fat. The new study also showed oxytocin hormone therapy may help reduce symptoms of Prader-Willi syndrome.
Sources: mayoclinic
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Tags: Prader-Willi cause, Prader-Willi syndrome, Prader-Willi syndrome symptom, Prader-Willi syndrome treatment