National Organization for Rare Disorders, Inc.
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.
Stickler syndrome refers to a group of disorders of the connective tissue that affect multiple organ systems of the body such as the eyes, skeleton, inner ear, and/or the head and face. Connective tissue, which is the material between cells of the body that gives the tissue form and strength, is found all over the body. Connective tissue is made up of a protein known as collagen of which there are several different varieties found in the body. Stickler syndrome often affects the connective tissue of the eye, especially in the interior of the eyeball (vitreous humor), the specialized tissue that serves as a buffer or cushion for bones at joints (cartilage) and the ends of the bones that make up the joints of the body (epiphysis). Five distinct forms of Stickler syndrome have been identified in the medical literature based on location of the mutated gene and inheritance pattern.
Stickler syndrome type I (STL1) is responsible for approximately 75 percent of reported cases and presents with a wide variety of symptoms (eye, ear, jaw and cleft, joints) and occurs due to mutations of the COLA21 gene on chromosome 12q13.11 – q13.3. The inheritance pattern is autosomal dominant.
Stickler syndrome type II (STL2) occurs due to mutations of the COL11A1 gene on chromosome 1p21 . The inheritance pattern is autosomal dominant.
Stickler syndrome type III (STL3) has been described as a "Stickler-like" syndrome that affects the joints and hearing without involving the eyes. It occurs due to mutations of the COL11A2 gene on chromosome 6p21.3. The inheritance pattern is autosomal dominant. This form is now considered the same disorder as heterozygous oto-spondylo-mega-epiphyseal dysplasia (OSMED). For more information on heterozygous OSMED see the NORD report on this disorder.
A mutation in a fourth gene, COL9A1, located on chromosome 6q13, has been identified in one reported kindred with Stickler syndrome (Stickler syndrome type IV or STL4). The inheritance pattern is autosomal recessive.
Additional cases of Stickler syndrome have been reported that are not associated with any of the identified Stickler genes suggesting that at least one more as yet unidentified gene may be associated with Stickler syndrome.
Cleft Palate Foundation
1504 East Franklin Street
Chapel Hill, NC 27514-2820
Stickler Syndrome Support Group
PO Box 371
Surrey, Intl KT12 2YS
Tel: 44 1932 267635
Fax: 44 1932 267635
Stickler Involved People
Augusta, KS 67010
NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda, MD 20892-2510
Pierre Robin Network
Quincy, IL 62305
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Foundation Fighting Blindness (Canada)
890 Yonge Street, 12th Floor
Toronto, Ontario, M4W 3P4
PO Box 241956
Los Angeles, CA 90024
Let Them Hear Foundation
1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Perkins School for the Blind
175 North Beacon St.
Watertown, MA 02472
National Consortium on Deaf-Blindness (NCDB)
The Teaching Research Institute
Western Oregon University
345 N. Monmouth Ave.
Monmouth, OR 97361
European Skeletal Dysplasia Network (ESDN)
Wellcome Trust Centre for Cell-Matrix Research
Faculty of Life Sciences
University of Manchester
Michael Smith Building, Oxford Road
Manchester, M13 9PT
Tel: 44 161 275 5642
Fax: 44 161 275 5082
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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