Stickler Syndrome

Important
It is possible that the main title of the report Stickler Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

Arthro-Ophthalmopathy
Epiphyseal Changes and High Myopia
Ophthalmoarthropathy
Weissenbacher-Zweymuller Syndrome

Disorder Subdivisions

None

General Discussion

Stickler syndrome refers to a group of disorders of the connective tissue that involves several of the body’s organ systems such as the eye, skeleton, inner ear, and/or the head and face. Connective tissue is made up of a protein known as collagen that develops into the several varieties found in the body. It is the tissue that physically supports many organs in the body and may act like a glue or an elastic band that allows muscles to stretch and contract. Stickler syndrome often affects the connective tissue of the eye, especially in the interior of the eyeball (vitreous humor), and the ends of the bones that make up the joints of the body (epiphysis).

Most authorities agree that there are four types of Stickler syndrome, of which three are reasonably well differentiated and a fourth remains not well understood.

Stickler syndrome Type I; (STL1): This form is responsible for about 75% of reported cases and presents with a full array of symptoms (eye, ear, jaw and cleft, joints).

Stickler syndrome Type II; (STL2): Patients with this form also present with a full array of symptoms.

Stickler syndrome Type III; (STL3): Patients with this form present with a “Sickler-like” syndrome that affects the joints and hearing without involving the eyes. This form is also known as Oto-spondylo-megaepiphyseal dysplasia (OSMED).
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Resources

Stickler Syndrome Support Group
PO Box 371
Walton-on-the-Thames
Surrey, Intl KT12 2YS
United Kingdom
Tel: 44 1932 267635
Fax: 44 1932 267635
Email: wendy@stickler.org.uk
Internet: http://www.stickler.org.uk

Stickler Involved People
15 Angelina
Augusta, KS 67010
Tel: (316)775-2993
Email: sip@sticklers.org
Internet: http://www.sticklers.org

NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda, MD 20892-2510
United States
Tel: 3014965248
Fax: 3014021065
Email: 2020@nei.nih.gov
Internet: http://www.nei.nih.gov/

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

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: 12/28/2005
Copyright 1987, 1990, 1997, 2003 National Organization for Rare Disorders, Inc.

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