Pallister Killian Mosaic Syndrome / Disease

Diseases & Conditions

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Pallister Killian Mosaic Syndrome

Synonyms of Pallister Killian Mosaic Syndrome

Chromosome 12, Isochromosome 12p syndrome
Killian Syndrome
Killian/Teschler-Nicola Syndrome
Pallister Mosaic Syndrome
Teschler-Nicola/Killian Syndrome
Tetrasomy 12p, mosaic

Disorder Subdivisions

General Discussion
Pallister-Killian Mosaic Syndrome is a rare chromosomal disorder caused by the presence of four copies of the short arm of chromosome 12 instead of the normal two. Major symptoms may include a coarse face with a high forehead, sparse hair on the scalp, an abnormally wide space between the eyes, a fold of the skin over the inner corner of the eyes, and a broad nasal bridge with a highly arched palate. Mental retardation, loss of muscle tone, and streaks of skin lacking color are often present.
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Organizations related to Pallister Killian Mosaic Syndrome

Chromosome Disorder Outreach, Inc.
P.O. Box 724
Boca Raton FL 33429-0724
Phone #: 561-395-4252
800 #: N/A
e-mail: [email protected]
Home page: http://www.chromodisorder.org
MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: [email protected]
Home page: http://www.netnet.net/mums/
Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: [email protected]
Home page: http://www.madisonsfoundation.org
PKS Kids
123 Carowinds Drive
Greencastle PA 17225
Phone #: N/A
800 #: N/A
e-mail: [email protected]
Home page: http://www.pkskids.net
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: [email protected]
Home page: http://www.thearc.org/
UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Surrey Intl CR3 5GN
Phone #: 44 -0 1-883 330766
800 #: --
e-mail: [email protected]
Home page: http://www.rarechromo.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html