Doctor insights on:
Is Pallister Killian Syndrome Curable
Unfortunately, no.: Pallister-killian syndrome is a rare condition where some cells in the body have an unusual, extra chromosome (mosiac isochromosome 12p). This abnormal chromosome, present before birth, affects the growth and development of the whole body throughout one's lifetime, usually resulting in birth defects and mental retardation. See http://ghr.Nlm.Nih.Gov/condition/pallister-killian-mosaic-syndrome. ...Read moreSee 1 more doctor answer
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
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
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
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
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
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 moreSee 1 more doctor answer
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
Let me explain: Horner's syndrome: a rare condition caused by damage to the sympathetic nervous system that supply the eye on the affected side of the head. Small pupils pupil cannot dilate drooping eyelids loss of sweating constricted pupils on affected side of face . The treatment depend on the cause. ...Read more
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