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.
    .

    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: info@chromodisorder.org
      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: mums@netnet.net
      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: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • PKS Kids
      123 Carowinds Drive
      Greencastle PA 17225
      Phone #: N/A
      800 #: N/A
      e-mail: onebuddy@comcast.net
      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: info@thearc.org
      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: info@rarechromo.org
      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

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