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

Cockayne Syndrome


Synonyms of Cockayne Syndrome
  • CS
  • Deafness-Dwarfism-Retinal Atrophy
  • Dwarfism with Renal Atrophy and Deafness
  • Neill-Dingwall Syndrome
  • Progeroid Nanism

Disorder Subdivisions

  • Classical Form, Cockayne Syndrome Type I (Type A)
  • Congenital Form, Cockayne Syndrome Type II (Type B)
  • Late Onset, Cockayne Syndrome Type III (Type C)


General Discussion
Cockayne Syndrome (CS) is a rare form of dwarfism. It is an inherited disorder whose diagnosis depends on the presence of three signs (1) growth retardation, i.e. short stature, (2) abnormal sensitivity to light (photosensitivity), and (3) prematurely aged appearance (progeria). In the classical form of Cockayne Syndrome (CS type I) the symptoms are progressive and typically become apparent after the age of one year. An early onset or congenital form of Cockayne Syndrome (CS type II) is apparent at birth (congenital). There is a third form, known as Cockayne Syndrome Type III (CS type III), that presents later in the child?s development and is generally a milder form of the disease. A fourth form; now recognized as Xeroderma pigmentosa-Cockayne syndrome (XP-CS), combines features of both of these disorders.
.

Organizations related to Cockayne Syndrome
  • CLIMB (Children Living with Inherited Metabolic Diseases)
    Climb Building
    Crewe Intl CW2 6BG
    Phone #: +44- 87-0 7700 325
    800 #: --
    e-mail: info@climb.org.uk
    Home page: http://www.CLIMB.org.uk
  • Human Growth Foundation
    997 Glen Cove Avenue
    Glen Head NY 11545
    Phone #: 516-671-4041
    800 #: 800-451-6434
    e-mail: hgf1@hgfound.org
    Home page: http://www.hgfound.org/
  • Let Them Hear Foundation
    1900 University Ave #101
    East Palo Alto CA 94303
    Phone #: 650-462-3143
    800 #: 877-735-2929
    e-mail: info@letthemhear.org
    Home page: http://www.letthemhear.org
  • MAGIC Foundation for Children's Growth
    6645 W. North Avenue
    Oak Park IL 60302
    Phone #: 708-383-0808
    800 #: 800-362-4423
    e-mail: mary@magicfoundation.org
    Home page: http://www.magicfoundation.org
  • 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
  • National Consortium on Deaf-Blindness (NCDB)
    The Teaching Research Institute
    Monmouth OR 97361
    Phone #: 800-438-9376
    800 #: 800-438-9376
    e-mail: info@nationaldb.org
    Home page: http://www.nationaldb.org
  • Perkins School for the Blind
    175 North Beacon St.
    Watertown MA 02472
    Phone #: 617-924-3434
    800 #: N/A
    e-mail: Info@Perkins.org
    Home page: http://www.Perkins.org
  • Progeria Research Foundation, Inc.
    532 Lowell Street
    Peabody MA 01961-3453
    Phone #: 978-535-2594
    800 #: --
    e-mail: info@progeriaresearch.org
    Home page: http://www.progeriaresearch.org
  • Share and Care Cockayne Syndrome Network, Inc.
    P.O. Box 570618
    Dallas TX 75357
    Phone #: 214-660-8353
    800 #: --
    e-mail: J93082@aol.com
    Home page: http://www.cockayne-syndrome.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