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Doctor insights on: Pallister Killian Syndrome

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Dr. Lois Freisleben-Cook
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. Lois Freisleben-Cook
7 doctors shared insights

Pallister Killian Syndrome (Overview)

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


2

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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