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You can't test for it but look for these symptoms etc.:
Zellweger syndrome is an inherited peroxisomal metabolic disorder. Peroxisomes are found in almost all body cells and are responsible for many important cell processes. Zellweger syndrome causes a defect in the peroxisomes, which affects the body severely.
Zellweger syndrome is estimated to occur in 1 of every 50,000 to 100,000 births. It affects both males and females and is present at birth.
Symptoms
Zellweger syndrome affects many parts of the body, including:
- Head and face - enlarged head, high forehead, large anterior fontanelle ("soft spot"), malformed ear lobes, flat-looking face
- Brain and nervous system - abnormal brain development leads to seizures, hearing and vision impairment, profound mental retardation and developmental delay, diminished or absent reflexes
- Liver - enlarged liver with impaired function, jaundice
- Kidneys - renal cysts, hydronephrosis
- Muscles and bones - very low muscle tone (hypotonia), bone defects in the hands, legs, and feet
Diagnosis
The distinctive shape of the head and face of the infant born with Zellweger syndrome provides a clue to the diagnosis. Zellweger syndrome causes the build-up of very-long-chain fatty acids (VLCFA), so a test for VLCFA can help confirm the diagnosis. This and other highly specialized biochemical and genetic tests can be done at certain testing centers.
Treatment
Despite the progress research has made in understanding Zellweger syndrome, no cure yet exists, and infants born with the disorder usually die within the first year of life. Medical care focuses on treating the symptoms present, such as liver dysfunction and seizures. Changing the amount of VLCFA in the diet has not been shown to be an effective treatment.
In addition, physical, occupational, and speech therapy can assist with feeding and comfort issues.
Genetic counseling
Parents should receive genetic counseling, since Zellweger syndrome is inherited in a autosomal recessive manner. This means that both parents are carriers of the defective gene, and each future child has a 25% chance of being born with Zellweger syndrome.
What else can I help you with?
What percentage of the population suffers from Zellweger syndrome?
Zellweger syndrome is a rare genetic disorder with an estimated prevalence of 1 in 50,000 to 1 in 100,000 births. This translates to less than 0.001% of the population being affected by Zellweger syndrome.
How is Turners Syndrome transmitted?
Turner syndrome is caused by a missing or incomplete X chromosome in females. It is typically not inherited, but rather occurs as a random event during the formation of reproductive cells in one of the parents. It is not passed down from parent to child.
What are Renee Zellweger's movies?
See the related link for a complete list.
How do doctors test to see if you have metabolic syndrome?
here is a website to learn more about metabolic syndrome. I hope this helps you on your quest for answers http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0004546/
What can someone see in a karyotype?
They can see the Gender of the person and/or if they have any types of Syndromes such as (Patau Syndrom, Down Syndrome, etc.)
Is it the real renee zellweger on Facebook?
Is it the real renee zellweger on facebook?I really don't think so, I found 6 facebook accounts of renee zellweger, If you look up celebritys that are dead you will see they have facebook accounts too. I don't know why people post fake accounts.
What medicines can be taken for dravet syndrome if you test positive for the scn1a gene?
A combination of stiripentol (diacomit), clobazam (frisium) and depakote has been the most successful combination for my son who has Dravet syndrome. You can get an overview of the syndrome and see information on research at www.dravetfoundation.org.
What is liddle test in cushings syndrome?
A test that administers dexamethasone to differentiate between normal and cushings Normals will be suppressed then return to normal with a low dose of dexamethasone. Affected will be suppressed with a high dose of dexamethasone
How does science play a role in the detection of down syndrome?
Science allows us to actually look at our chromosomes. If we see a third copy of chromosome number 21, we know that a person has down syndrome.
Is there a straight forward test a doctor can do to see if a person is taking zipiclone tabs?
It may show in the blood test.
What activities can be difficult for a person with Down syndrome?
well one thing for sure making friends. There are always people that are going to make fun of them and not see them as a regular person. But some may struggle in just daily life. Talking, understanding, and little things. I actually have a friend who has down syndrome but she is a wonderful person!
What is morquois syndrome?
see link
