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"Resources" on this report.
Copyright 1987, 1990, 1997, 2003, 2008
NORD is very grateful to Ruth M. Liberfarb, MD, PhD, Director of the Stickler Syndrome Clinic at the Massachusetts General Hospital for Children, for assistance in the preparation of this report.
Synonyms of Stickler Syndrome
- Hereditary Arthro-Ophthalmopathy
Disorder Subdivisions
- Stickler syndrome type I
- Stickler syndrome type II
General Discussion
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.
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Organizations related to Stickler Syndrome
- Cleft Palate Foundation
1504 East Franklin Street
Suite 102
Chapel Hill NC 27514-2820
Phone #: 919-933-9044
800 #: 800-242-5338
e-mail: info@cleftline.org
Home page: http://www.cleftline.org
- 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 None M13 9PT
Phone #: 44 -161- 275 5642
800 #: N/A
e-mail: info@esdn.org
Home page: http://www.esdn.org
- Foundation Fighting Blindness (Canada)
890 Yonge Street, 12th Floor
Toronto, Ontario None M4W 3P4
Phone #: 416--36-0-4200
800 #: 800--46-1-3331
e-mail: info@ffb.ca
Home page: http://www.ffb.ca
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- Let Them Hear Foundation
1900 University Avenue, Suite 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
- MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- 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
- NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda MD 20892-3675
Phone #: 301-495-4484
800 #: 877-226-4267
e-mail: NIAMSinfo@mail.nih.gov
Home page: http://www.niams.nih.gov/Health_Info
- NIH/National Eye Institute
Building 31 Rm 6A32
31 Center Dr MSC 2510
Bethesda MD 20892-2510
Phone #: 301-496-5248
800 #: --
e-mail: 2020@nei.nih.gov
Home page: http://www.nei.nih.gov/
- National Consortium on Deaf-Blindness (NCDB)
The Teaching Research Institute
Western Oregon University
345 N. Monmouth Ave.
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
- Pierre Robin Network
3604 Biscayne
Quincy IL 62305
Phone #: 217-224-0698
800 #: --
e-mail: help@pierrerobin.org
Home page: http://www.pierrerobin.org
- Stickler Involved People
15 Angelina
Augusta KS 67010
Phone #: 316-775-2993
800 #: --
e-mail: sip@sticklers.org
Home page: http://www.sticklers.org
- Stickler Syndrome Support Group
PO Box 371
Walton-on-the-Thames
Surrey Intl KT12 2YS
Phone #: 44 -193-2 267635
800 #: --
e-mail: wendy@stickler.org.uk
Home page: http://www.stickler.org.uk
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