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

Penta X Syndrome


Synonyms of Penta X Syndrome
  • 49, XXXXX Chromosome Constitution
  • 49, XXXXX Karyotype
  • 49,XXXXX Syndrome
  • Pentasomy X
  • XXXXX Syndrome

Disorder Subdivisions



    General Discussion
    Penta X Syndrome is a rare chromosomal disorder that affects females. Females normally have two X chromosomes. However, in those with Penta X Syndrome, there are three additional (or a total of five) X chromosomes in the nuclei of body cells (pentasomy X). The condition is typically characterized by moderate to severe mental retardation, short stature, malformations of the skull and facial (craniofacial) region, and/or other physical abnormalities. Characteristic craniofacial malformations may include upslanting eyelid folds (palpebral fissures), a flat nasal bridge, malformed ears, a short neck with a low hairline, and/or other findings. Penta X Syndrome may also be characterized by abnormal deviation (clinodactyly) or permanent flexion (camptodactyly) of the pinkies or fifth fingers; heart and/or kidney defects; deficient development of the ovaries and uterus; and/or other physical findings. The disorder results from errors during the division of reproductive cells in one of the parents.
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    Organizations related to Penta X Syndrome
    • AmeriFace
      PO Box 751112
      Las Vegas NV 89136
      Phone #: 702-769-9264
      800 #: 888-486-1209
      e-mail: info@ameriface.org
      Home page: http://www.ameriface.org
    • American Heart Association
      National Center
      Dallas TX 75231-4596
      Phone #: 214-373-6300
      800 #: 800-242-8721
      e-mail: inquire@heart.org
      Home page: http://www.americanheart.org
    • Children's Craniofacial Association
      13140 Coit Road
      Dallas TX 75240
      Phone #: 214-570-9099
      800 #: 800-535-3643
      e-mail: csmith@ccakids.com
      Home page: http://www.ccakids.com
    • 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
    • Craniofacial Foundation of America
      975 East Third Street
      Chattanooga TN 37403
      Phone #: 423-778-9192
      800 #: 800-418-3223
      e-mail: farmertm@erlanger.org
      Home page: http://www.craniofacialcenter.com
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • National Dissemination Center for Children with Disabilities
      P.O. Box 1492
      Washington D.C. 20013
      Phone #: 202-884-8200
      800 #: 800-695-0285
      e-mail: nichcy@aed.org
      Home page: http://www.nichcy.org
    • Support Organization for Trisomy 18, 13, and Related Disorders
      2982 South Union Street
      Rochester NY 14624-1926
      Phone #: N/A
      800 #: 800-716-7638
      e-mail: barbv@trisomy.org
      Home page: http://www.trisomy.org
    • 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