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Doctor insights on: Pallister Killian Syndrome Life Expectancy

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Dr. Arnold Malerman
7 doctors shared insights

Pallister Killian Syndrome (Definition)

mosaicism,extra chromosome 12p ...Read more


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Is pallister killian syndrome curable?

No: Pallister killien is a random defect of the 12th chromosome. It has muliple far-reaching effects. It is evidenced by hypotonia, developmental delay, itellectual impairment, coarse features, sparse hair. It is not hereditary. Once a person has it one can only cope with the defect to try to ameliorate the symptoms, ie hearing defects with a hearing aid, etc. ...Read more

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Do people with pallister killian syndrome have a lot of pain?

Do people with pallister killian syndrome have a lot of pain?

Sometimes: Pallister-killian syndrome is a rare genetic condition caused by a chromosomal rearrangement that may cause birth defects, like cleft palate. Children and adults with this condition may be very mildly affected, or they may have many serious problems that will require multiple surgeries. Go to http://www.Pkskids. Net/ to connect with families who have, like you, worried about this important question. ...Read more

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Can pallister killian syndrome be cured?

See a doctor: I think you mean foster kennedy syndrome in which an enlarging brain tumor obstructs one optic nerve causing atrophy to that nerve, and also causes elevation of the pressure in the brain causing optic nerve edema (papilledema) in the other nerve. This is a rare circumstance which requires immediate attention by a neuro-ophthalmologist or neurosurgeon. ...Read more

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Can you tell me about pallister-killian syndrome?

PKS is from a genet-: Ic accident as a sperm or egg is forming that leads to the fetus' having 4 copies of the genes on the short arm of Chromosome 12 in some cells of the body & the normal 2 copies in other cells, called mosaicism. It impacts many organ systems & causes Intellectual Disability, "coarse" facial featues & sparse hair. See www.rarechromo.org for the PKS support page of the organization Unique. ...Read more

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Can you tell me about a kid with pallister-killian syndrome?

Can you tell me about a kid with pallister-killian syndrome?

PKS is from a genet-: Ic accident that leads to the fetus' having usually 2 extra copies of genes on the short arm of Chromosome 12 in some cells of the body & the normal 2 copies in other cells, called mosaicism. It can impact all organ systems & cause profound Intellectual Disability, atypical facial features & abnormal hair growth pattern. See www.rarechromo.org for the PKS support page of the organization Unique. ...Read more

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What are the most common symptoms of pallister killian syndrome?

Pallister Killian: The following website discusses the symptoms of this rare genetic disorder extensively; it also provides resources for patients & families: http://ghr. Nlm. Nih. Gov/condition/pallister-killian-mosaic-syndrome. ...Read more

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Do doctors see a lot of patients with pallister killian syndrome?

Occasionally: Patients with pallister killian are not common. It is recognized by coarse features, sparse hair development and decreased muscle tone. It is associated with development delays and intellectual impairment. It can be very pronounced or mild id appearance. ...Read more

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My son is 2 years old and developmently closer to 1. He possibly has Pallister Killian Syndrome. When should we know how delayed he'll remain.? Age?

My son is 2 years old and developmently closer to 1. He possibly has Pallister Killian Syndrome.  When should we know how delayed he'll remain.? Age?

Developmental pace: At young ages faster and slower developmental paces can be related to lots of different things. A developmental pediatrician can check his developmental level and give you recommendstions of activities to help support his development at his natural pace. Don't worry. Give him an environment rich in healthy experiences. Create a play group with 1 or 2 other children so he can learn from others. ...Read more

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How to wean child with pks syndrome?

How to wean child with pks syndrome?

?: Pks is an extremely rare congenital syndrome; I'm not sure what the question is about weaning with relationship to this. ...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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Can you please lay out the life expectancy for people who have down syndrome?

Can you please lay out the life expectancy for people who have down syndrome?

Average > 60 yrs: As long as the initial issues facing these infants are addressed as they would for normal kids (heart defects, abdominal defects, etc) they have a projected lifespan in excess of 60 years. ...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 of someone woth kearn- sayres syndrome?

What is the life expectancy of someone woth kearn- sayres syndrome?

No data about this: Life expectancy is generally reduced but there is no data available to tell us how much it is reduced. It depends on the complications of the disease, especially if there are cardiac problems. ...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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My friend has a mild form of marphan syndrome. She takes her medication. What's her life expectancy?

My friend has a mild form of marphan syndrome. She takes her medication. What's her life expectancy?

Marfan syndrome: With excellent care, can be normal. Cardiac and vascular care by specialists is essential. ...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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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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I want to khnow about the life expectancy in west syndrome patients. ?

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

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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.
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Here are some...: Since West syndrome is a very rare epileptic condition in the infants, most of doctors may not have personal experience in it. But, I found the contents in the link to follow could be helpful; that is http://syndrome.org/west-syndrome/. The Best wish to his health and your family; Happy Holidays 2015. ...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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Polymyositis life expectancy with sjogren's syndrome? What is prognosis?

Polymyositis life expectancy with sjogren's syndrome? What is prognosis?

Depends: On the course of the disease, organ involvement, baseline health status, the aggressiveness of the condition, and many other factors (response to treatment, etc.). ...Read more

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I have Marfan syndrome. Is there tests that can prolong my life expectancy?

I have Marfan syndrome. Is there tests that can prolong my life expectancy?

An echocardiogram: If you have Marfan syndrome, you should be aware that your cardiologist can use ultrasound to watch for the gradual enlargement of your aorta. Depending on your age, height, and weight, she can determine whether your aorta is growing larger than normal and recommend either medicine, like a beta blocker, or surgery to prevent dissection or rupture of the aorta. ...Read more