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Doctor insights on: Pallister Killian Syndrome

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Dr. Lynne Weixel
7 doctors shared insights

Pallister Killian Syndrome (Overview)

mosaicism,extra chromosome 12p development disability,epilepsy pigment disorde


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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

Dr. Lynne Weixel
7 doctors shared insights

Pallister Killian Syndrome (Overview)

mosaicism,extra chromosome 12p development disability,epilepsy pigment disorde


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2
What are the most common symptoms of pallister killian syndrome?

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

Dr. John Landi Dr. Landi
<b>1</b> doctor agreed:
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Managing Restless Leg Syndrome (Checklist)

See a vein specialist
Once
Check cholesterol medications
Once
Have a venous ultrasound to check for reflux
Once
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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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Is Marfan syndrome dangerous? Any possible medication to get rid of the possible health problems?

Is Marfan syndrome dangerous? Any possible medication to get rid of the possible health problems?

Potentially yes..: Marfan syndrome is a disorder of the connective tissues which strengthen the body--medically, it affects the skeletal (weaker tissues, joints, flatfeet etc) , cardiovascular (dilated aortic root, valve trouble etc..), eye (cataract/lense dislocation), and skin systems. Most dangerous is involvement in the heart as above. Unfortunately, no specific medication available. Consult doc. Good luck. ...Read more

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Living with Polycystic Ovarian Syndrome (Checklist)

Eliminate low-fat, high-carb foods from your diet
once
Reverse PCOS & problems with HFLC foods, study: http://goo.gl/JH8XBX
daily
Monitor your weight and review your diet daily.
daily
Blend exercises which make sense into your daily routine
daily
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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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Living with Down Syndrome (Checklist)

Get genetic counseling.
Once
Enroll in early intervention program.
Once
Get help from local and national support groups.
Once
Consider help from mental health workers.
Once
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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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Living with Irritable Bowel Syndrome (Checklist)

Try to notice and avoid precipitating factors
Once
Start a trial of increased dietary fiber
Once
See your PMD or gastroenterologist if symptoms persist
Once
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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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Dr. Joshua Batt Dr. Batt
<b>1</b> doctor agreed:
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Managing Carpal Tunnel Syndrome (Checklist)

Visit your medical provider for accurate diagnosis
Once
Wear a wrist brace at night
daily
Take pain medications as directed
Once
Use proper posture when performing tasks
Once
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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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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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Dr. Felix Toro Dr. Toro
<b>1</b> doctor agreed:
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Living with Asperger's Syndrome (Checklist)

Learn about your condition
once
Listen, listen, listen
once
Practice stress management and mindfulness
2x day
Do not be afraid to Ask for feedback
3x day
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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