Cockayne Syndrome

Synonyms

• 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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Resources

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building

176 Nantwich Road

Crewe, Intl CW2 6BG

United Kingdom

Tel: +44 870 7700 325

Fax: +44 870 7700 327

Email: info@climb.org.uk

Internet: http://www.CLIMB.org.uk



Human Growth Foundation

997 Glen Cove Avenue

Glen Head, NY 11545

Tel: (516)671-4041

Fax: (516)671-4055

Tel: (800)451-6434

Email: hgf1@hgfound.org

Internet: http://www.hgfound.org/



MAGIC Foundation for Children's Growth

6645 W. North Avenue

Oak Park, IL 60302

Tel: (708)383-0808

Fax: (708)383-0899

Tel: (800)362-4423

Email: mary@magicfoundation.org

Internet: http://www.magicfoundation.org



Share and Care Cockayne Syndrome Network, Inc.

P.O. Box 570618

Dallas, TX 75357

USA

Tel: (214)660-8353

Fax: (214)660-8353

Email: J93082@aol.com

Internet: http://www.cockayne-syndrome.org



Progeria Research Foundation, Inc.

532 Lowell Street

Peabody, MA 01961-3453

USA

Tel: (978)535-2594

Fax: (978)535-5849

Email: info@progeriaresearch.org

Internet: http://www.progeriaresearch.org



Let Them Hear Foundation

1900 University Ave #101

East Palo Alto, CA 94303

Tel: (650)462-3143

Fax: (650)462-3143

Tel: (877)735-2929

Email: info@letthemhear.org

Internet: http://www.letthemhear.org



Perkins School for the Blind

175 North Beacon St.

Watertown, MA 02472

Tel: (617)924-3434

Fax: (617)926-2027

Email: Info@Perkins.org

Internet: http://www.Perkins.org



National Consortium on Deaf-Blindness (NCDB)

The Teaching Research Institute

Western Oregon University

345 N. Monmouth Ave.

Monmouth, OR 97361

Tel: (800)438-9376

Fax: (503)838-8150

Tel: (800)438-9376

TDD: (800)854-7013

Email: info@nationaldb.org

Internet: http://www.nationaldb.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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  9/23/2007

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