Doctor insights on:
Pallister Killian Syndrome Life Expectancy
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.See 1 more doctor answer
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.
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.
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.
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.
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.
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.
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.
Normal: Life expectancy should be normal. There are no effects that affect heart, or other major systems that would reduce life expectancy.
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.
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.
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 marfans 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.
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.
Normal: If the craniofacial abnormalities are addressed then the life expectancy can be otherwise normal.
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.See 1 more doctor answer
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