Pallister Killian Mosaic Syndrome: Chromosome 12 Disorder

Pallister Killian Mosaic Syndrome or PKS is a rare chromosome disorder affecting less than 200 persons worldwide. PKS is so rare that many doctors and pediatricians do not even know about it, although they should. Pallister Killian Syndrome is often diagnosed at birth but diagnosis does not always come easy. PKS is a disorder of the 12th chromosome, occurring because there are four copies instead of the normal two. PKS may also be known as Tetrasomy 12p and can affect almost every part of the body.

Because Pallister Killian Mosaic Syndrome is so rare, there is not much scientific or medical research available. There are several universities and non profits are working hard to provide more information to the general public and medical community. Progress is limited because of the rarity of this disorder but solid evidence has been recorded in medical journals, university studies, and reported by hospitals around the globe. The advancement of genetics studies has also provided useful information about PKS and its symptoms.

Within moments of birth it is possible to tell if a baby may have Pallister Killian Syndrome. PKS babies have very common facial features that include droopy upper eyelids, high forehead, wide nasal bridge or gap between eyes, thick low set ears, and patchy hair on the scalp. Persons born with PKS may also have an extra finger or toe, extra nipple, suffer from a heart condition, may have crossed eyes or be unable to focus, and could have a short neck or limbs. PKS is not hereditary, is not caused by environment or diet, and there is nothing the parents did to cause it. Like Down Syndrome, all PKS children look alike with similar facial and body features.

The list of cosmetic defects associated with PKS goes on to include cleft or arched pallet, lack of muscle tone, streaky skin or rough hard patches, broad or long thumbs and big toe, small genitals in both girls and boys, and flat facial features. It is unknown how long a person with PKS will live, or what their quality of life may be because there are not many records. Children with PKS can grow into puberty and beyond, others may die at birth or shortly thereafter, and some may even live into their 40's with severe disabilities. It's very hard to tell because the disease varies greatly from person to person.

PKS is a rare chromosome disorder. There is no cure and the person suffering with PKS may be required to undergo many tough surgeries in a short time span. Pallister Killian Syndrome can frighten parents and family but it is possible for a child with PKS to live a comfortable, happy life. If you believe your child may have PKS you should see a genetics doctor right away. It is best to get a reference from your doctor or pediatrician first. The University of Washington has a list of genetics clinics on their website at www.genetests.org where you can search by zip code or state. PKS can be difficult to diagnose because it is not easily detected by a blood test, and often not even tested for. A mouth swab of mucus or a skin biopsy is the best way to determine if your child has PKS.

For some diagnosis comes at birth but it may take 4-6 months, especially if the doctor is not familiar with the disorder. Children with PKS often have trouble walking, sitting up, crawling, talking, and rolling over. Some of these things may never be achieved at all and a person with PKS may become bedridden, wheelchair bound, and may never speak a single word. Many people with PKS are blind or deaf and may not interact with their surroundings. Although many PKS babies and children are socially limited, many are fairly happy and some may even be sociable. PKS causes delays in cognitive development, learning and physical disabilities, and those suffering from it will never be independent.

Depending on the severity of Pallister Killian Syndrome some persons may be incontinent, experience seizures, may have apnea or a collapse of the airway, and the brain may be small or surrounded by excess fluid. The vagina or anus may also be closed requiring surgery. Some babies with PKS may also have diaphragm hernias that can be fatal if untreated. Although there is not much medical research on Pallister Killian Syndrome there are a few support groups available. PKS Kids is a non profit organization offering information, advice, support, and resources for children with PKS. PKS Kids can be found at www.pkskids.net

Because there are many chromosome disorders there is also a support group for that too. The Rare Chromosome Disorder Support group can be found at www.rarechromo.org For more information on this subject you can also search the National Library of Medicine at www.nlm.nih.gov