Wolf Hirschhorn syndrome is when a mutation occurs in the Chromosome 4 or a little piece of it is deleted or lost. This is normally not inherited. It is an accidental or natural disorder. Both parents could be healthy and have no deletion in Chromosome 4 and still have a child with the disorder because while trying to produce a zygote the chromosomes might have been rearranged or were accidentally deleted. This disorder affects peoples' physical appearance and how they are mentally as well.
Signs and Symptoms
- Distinctive Facial features- wide set eyes, broad nose, prominent forehead
- Slow growth
- weak cry during infancy
- heart defects
- seizures
- any form of retardation
- difficulty to swallowing food
- Because the distinctive facial features they children that are born could be diagnosed with it just by how they look
- Ultra sound
- X rays by looking for bone or internal mutation
There is no cure for the genetic disorder directly, but there are things that could help some of the symptoms. For example, for the seizures there are medical cures for them. For food they could use a gastronomy feeding tube. For muscle strength they can go through physical therapy.
Prevalence in the Population
About 1 in 50,000 births have the disorder. It affects women more than it affects men. It occurs to all ethnic backgrounds.
Life Expectancy
The life expectancy is unknown because normally people with this genetic disorder would die as soon as they are born. But for those who survive they live to they are 45 or they live to they are 20. It is different for everyone.
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