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Doctor insights on: Cri Du Chat Syndrome Life Expectancy

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How many people have cri du chat syndrome?

How many people have cri du chat syndrome?

1/20k-1/50k births: The listed frequency of cri du chat syndrome is 1/20, 000-1/50, 000 births. The partial deletion of chromosome 5 is thought to represent 85% by spontaneous new mutations and 15% from an abnormal chromosomal contribution from an unaffected parent that carries a balanced rearrangement of chromosomal material. ...Read more

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Is cri du chat syndrome autosomal or sex-linked? Please advise!

Is cri du chat syndrome autosomal or sex-linked? Please advise!

Chromosome 5: The problem is with chromosome 5, so it's not sex linked. ...Read more

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How would the cri-du-chat syndrome affect someone if they had it?

How would the cri-du-chat syndrome affect someone if they had it?

Multiple issues: There are multiple issues with this dx.:slow growth, cat like cry, mental deficiency & small head affect all patients. Other significant features may include:low birth weight, low muscle tone, congenital heart disease & other issues to many to list. ...Read more

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What's it sound like to have cri du chat syndrome?

What's it sound like to have cri du chat syndrome?

Like a cat's cry: Cri du chat is french for "cry of the cat." cri du chat syndrome is caused by a deletion of part of the short arm (aka the "p" arm) chromosome 5. Newborns with 5p minus have a high pitched cry. It's a serious condition, but many children and adults do very well. Here is a link to the support group for families with cri du chat: http://www. Fivepminus. Org/. ...Read more

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What kind of chromosomal mutation causes the cri du chat syndrome?

What kind of chromosomal mutation causes the cri du chat syndrome?

Chromosome deletion: Cri du chat is a rare genetic disorder to to chromosome deletion on chromosome 5. See the good discussion of it here: https://en. Wikipedia. Org/wiki/Cri_du_chat

Here's a great organization formed to educate and support: https://fivepminus. Org/ ...Read more

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What causes cri du chat syndrome?

Spontaneous/inherite: The listed frequency of cri du chat syndrome is 1/20, 000-1/50, 000 births. The partial deletion of chromosome 5 is thought to represent 85% by spontaneous new mutations and 15% from an abnormal chromosomal contribution from an unaffected parent that carries a balanced rearrangement of chromosomal material. ...Read more

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What are the symptoms of cri du chat syndrome?

What are the symptoms of cri du chat syndrome?

See below: Cri-du-chat syndrome is caused by partial deletion of short arm of chromosome number 5. Cat-like cry in infancy, microcephaly (small head), slow growth, and hypotonia. ...Read more

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Can people with cri du chat syndrome communicate?

Delayed but do talk: Most cri du chat patients are able to communicate in short sentences by the age of ten. Their receptive language is more advanced than their expressive skills, but will remain quite limited. ...Read more

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How long can people live with Cri-Du-Chat syndrome?

Up to a normal life: Span depending on the which of the various medical problems that may have. ...Read more

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What type of inheritance pattern is cri du chat syndrome?

Spontaneous/inherite: The listed frequency of cri du chat syndrome is 1/20, 000-1/50, 000 births. The partial deletion of chromosome 5 is thought to represent 85% by spontaneous new mutations and 15% from an abnormal chromosomal contribution from an unaffected parent that carries a balanced rearrangement of chromosomal material. ...Read more

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If a person with cri du chat syndrome has a child will their child have it too?

If a person with cri du chat syndrome has a child will their child have it too?

Yes in theory: I could only find a single listed birth to a cri du chat patient in the world literature as of 2010. The outcome was not cited. If born there would be at least a 50% risk of the same abnormal chromosome pattern. Data supports a significant pattern of diminished sexual function along with their intellectual impairments. ...Read more

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Is cri-du-chat syndrome a common genetic disease?

Is cri-du-chat syndrome a common genetic disease?

Is rare.: This is a rare genetic disorder due to the deletion of chromosome 5p. It is called this due to the so called "cat cry" that these infants make. It occurs in 1 in 50000 live births, throughout all ethnicities, and is seen in females more than males by a 4:3 ratio. ...Read more

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Can I ask a q of another user on this site? Has anyone had a baby with cri-du-chat?

Can I ask a q of another user on this site? Has anyone had a baby with cri-du-chat?

Support groups: Www. Crisuchat. Org. Has information, support, links. Take the time to check it out. ...Read more

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What is cri-du-chat like: externally, internally, biochemically, and psychologically?

What is cri-du-chat like: externally, internally, biochemically, and psychologically?

Cri-du-chat: Cri-du-chat is a deletion of chromosome 5p that causes a genetic syndrome that includes a catlike cry from the infant. More information can be found here: http://ghr. Nlm. Nih. Gov/condition/cri-du-chat-syndrome ...Read more

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What percent of children have cri du chat?

What percent of children have cri du chat?

Very low: Prevalence of cri-du-chat syndrome in general public is estimated at 1:15, 000 to 1:50, 000. ...Read more

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What is the life expectancy for people with loeys-dietz syndrome?

What is the life expectancy for people with loeys-dietz syndrome?

Not Known: This disease has been diagnosed in about 300-500 people and is known as a disease entity only since 2005. Life expectancy is expected to increase like in Marfan's syndrome with improved awareness and medical progress.

Due to the high risk of death from aortic aneurysm rupture, patients should be followed closely.

A valuable resource for this is
http://www. Loeysdietz. Org/index. Ph. ...Read more

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What is the life expectancy for kids who have treachers collins syndrome?

What is the life expectancy for kids who have treachers collins syndrome?

Normal: If the craniofacial abnormalities are addressed then the life expectancy can be otherwise normal. ...Read more

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What is the life expectancy for patients with apert syndrome?

What is the life expectancy for patients with apert syndrome?

Normal: Before neurosurgeons learned how to open prematurely fused skull sutures, patients who went untreated would have severe effects from constricting the brain, since the skull could not enlarge fast enough to accommodate the growing brain. When treated early, the brain is allowed to grow normally. ...Read more

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What would the life expectancy of a patient with aspergers syndrome be?

What would the life expectancy of a patient with aspergers syndrome be?

Normal exectancy: Individuals with aspergers disorder do not have any specific related conditions that would shorten the life span of an affected individual. ...Read more

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Could my genetic syndrome shorten life expectancy (please answer!)?

Could my genetic syndrome shorten life expectancy (please answer!)?

Genetic disorders: It would help if you would be specific about what your genetic disorder is. ...Read more

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What is the life expectancy for someone with Treacher Collins Syndrome?

What is the life expectancy for someone with Treacher Collins Syndrome?

Usually normal: The life expectancy of a person with Treacher Collins Syndrome is normal. The exception is if there are significant jaw malformations which can affect breathing. ...Read more

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Lenox gastaut syndrome average life expectancy?

Lenox gastaut syndrome average life expectancy?

Haven't seen numbers: Haven't seen any numbers on life expectancy of lennox-gastaut patients. Maybe nobody has collected and published that information. One website reported a 3%-7% mortality in patients over a 9 year period (that sounds like 1/2 % per year). The deaths were often due to accidents. In such disorders, if a person is watched and cared for closely, he can outlive parents, and die of other natural causes. ...Read more

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What is the life expectancy with triple x syndrome?

What is the life expectancy with triple x syndrome?

Normal: Life expectancy should be normal. There are no effects that affect heart, or other major systems that would reduce life expectancy. ...Read more

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What is the life expectancy for kids with noonan syndrome?

What is the life expectancy for kids with noonan syndrome?

May be normal: Children with Noonan's Syndrome may have cardiac abnormalities such as pulmonic stenosis, ASD (atrial septal defect), VSD (ventricular septal defect). If these abnormalities are mild, then the life expectancy may be normal. ...Read more

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Does WPW syndrome affect life expectancy?

Does WPW syndrome affect life expectancy?

Depends: If diagnosed and properly treated (usually with a procedure called an ablation) one can have a normal life expectancy. However, prior to treatment a patient may have a fast heart rhythm that can be dangerous and potentially life threatening. ...Read more

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Is there a life expectancy for Treachery Collins Syndrome?

Is there a life expectancy for Treachery Collins Syndrome?

Normal: Why do you ask? If a family member is affected, the parents should have received genetics counseling: If not, they should arrange for it. See TreacherCollins. Org ...Read more

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I want to khnow about the life expectancy in west syndrome patients.?

I want to khnow about the life expectancy in west syndrome patients.?

Can be normal: Very tricky question. We know that over 80% of affected children reach beyond age 5 & it's not unusual for them to have normal lifespans. It's also dependent upon the cause of the spasms & whether the underlying reason (s) can be treated. The syndrome itself is not life threatening itself rather related illnesses that tend to complicate things in addition to medication consequences. ...Read more

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What's the average life expectancy of a person with williams syndrome?

What's the average life expectancy of a person with williams syndrome?

Genetic disorder: Rare disorder multiple systems involved apearance of face and body demonstrates poor developement. Loss of hearing, diabetes, heart failure, aortic valve abnormalities, high blood pressure, just to name a few issues. Life expectancy depends on early diagnosis and intense treatment and follow up. It can be normal except if there heart defect that is serious. ...Read more