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Pallister-Killian Syndrome
Sunday, 15 August 2004
Sunday, 15 August 2004
Isochromosome 12p Mosaic, Tetrasomy 12p, Pallister-Killian Mosaic syndrome, Teschler-Nicola and Kill

What

Pallister-Killian syndrome is a rare genetic disorder caused by structural changes in chromosome 12. Individuals with this syndrome may have characteristic facial features, growth problems and are usually short, fail to reach developmental milestones on time and often have learning problems. They may also have seizures, problems with breathing and defects of the heart. The muscles and bones can also be affected.

Who

Exactly how often Pallister-Killian syndrome occurs is not known, but at least 30 cases have been reported. It seems to occur equally in males and females and in all ethnic groups.

Signs and Symptoms

An individual with Pallister-Killian syndrome can have many or only a few of the following signs and symptoms. The severity of the features may also vary from person to person. Pallister-Killian syndrome usually causes characteristic facial features including a high forehead, small jaw, abnormally formed ears, a short nose, thin lips with a wide mouth, a large tongue, abnormally formed teeth, and a short or webbed neck. The eyelids may droop and there may be an increased distance between the eyes. There may only be a small amount of hair (alopecia) or the hair may grow slowly. The facial features are also described as coarse. Pallister Killian syndrome can cause muscle weakness and decreased tone of the muscles, which is often described as floppiness. The bones in the back can become curved with age (scoliosis). Between the ages of 5 and 10 years, the joints can also start to become stiff (joint contractures). An individual with Pallister-Killian syndrome may have problems with growth and are usually short. Children with this disorder often do not reach their developmental milestones on time and have learning problems. Pallister-Killian syndrome can also cause heart defects and problems with breathing. In some individuals, the diaphragm muscle, that is important for breathing, may not be formed correctly (congenital diaphragmatic hernia). This syndrome can also cause seizures. Individuals with Pallister-Killian syndrome may have hearing loss and in a few cases the lenses in the eyes have become cloudy (cataracts). During infancy, there may also be problems with poor feeding.

Possible Causes

Pallister-Killian syndrome is caused by an abnormality of a genetic structure called a chromosome. Chromosomes carry all of our genes with the information on how the body develops and functions. Normally there are 46 chromosomes. Individuals with Pallister-Killian syndrome have one extra chromosome. This extra chromosome is usually made up of duplicate copies of a piece of chromosome 12 (isochromosome 12p). This extra genetic material is what causes the signs and symptoms of this disorder. Importantly, the extra chromosome is usually not in all of the cells of the body and the severity of the disease may depend on how many cells are affected.

Diagnosis

The diagnosis of Pallister-Killain syndrome is made by finding the above described signs and symptoms on physical examination and then confirmed by finding the extra genetic material on a chromosome test. This disorder may also be diagnosed during prenatal examinations. Some of the signs and symptoms of this disorder can be found during routine prenatal ultrasound examination. If there are abnormal finding on ultrasound examination, a chromosome test can be done and this may show the extra genetic material.

Treatment

The diagnosis of Pallister-Killain syndrome is made by finding the above described signs and symptoms on physical examination and then confirmed by finding the extra genetic material on a chromosome test. This disorder may also be diagnosed during prenatal examinations. Some of the signs and symptoms of this disorder can be found during routine prenatal ultrasound examination. If there are abnormal finding on ultrasound examination, a chromosome test can be done and this may show the extra genetic material.

Prognosis

Since there have not been many studies of Pallister-Killian syndrome, the prognosis of this syndrome is not well known. However, the oldest known individuals with this syndrome are currently in their 40s. This may mean that the lifespan of individuals with this disorder may be relatively normal.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

Pallister-Killian Syndrome Home page
This is a great website in which families can contact others affected with Pallister-Killian syndrome. There is also general information on Pallister-Killian syndrome as well as a list of links that may be useful.

Yahoo Support Group page
This website connects you to a support group for Pallister-Killian syndrome. Pallister-Killian Syndrome Family Support Group 3700 Wyndale Court Fort Worth, TX 76109 Phone: (817) 927-8854 Fax: (817) 927-2073

Carrus Institute
This website is a message board through which you contact other families with Pallister-Killian syndrome (the latest postings are from 2003 but the email contacts may still be in use) These websites have general information on PKS or have links that may be useful.

http://www.rarechromo.org/

http://www.cafamily.org.uk/Direct/p075.html

http://www.cafamily.org.uk/Direct/c30.html

http://www.kumc.edu/gec/support/palliste.html

Chromosome Deletion Outreach, Inc.
800 #: 888-236-6880

National Institute on Deafness and other Communication Disorders
In a Q&A format, this website goes over many questions about hearing loss, and has a list of additional links that may be useful. The Arc (a national organization on mental retardation) http://www.thearc.org/ 800 #: 800-433-5255

Google Search for Pallister-Killian Syndrome

References and Sources

www.216.239.39.104/search?q=cache:iEOD8bE5nesJ:www.discoveryifi.org/Resources/Packetupload/PKS%2520Carrus%2520Web%25202004.pdf+pallister+killian+syndrome&hl=en www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601803 www.thefetus.net/page.php?id=1162 www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?term=Pallister-Killian+syndrome&field=name www.indiana.edu/~pietsch/pallister-killian.html www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=884