Cockayne 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

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.
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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: [email protected]
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: [email protected]
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: [email protected]
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: [email protected]
Home page: http://www.magicfoundation.org
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
National Consortium on Deaf-Blindness (NCDB)
The Teaching Research Institute
Monmouth OR 97361
Phone #: 800-438-9376
800 #: 800-438-9376
e-mail: [email protected]
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: [email protected]
Home page: http://www.Perkins.org
Progeria Research Foundation, Inc.
532 Lowell Street
Peabody MA 01961-3453
Phone #: 978-535-2594
800 #: --
e-mail: [email protected]
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: [email protected]
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