Diseases & Conditions


Stickler Syndrome

Synonyms of Stickler Syndrome
  • Arthro-Ophthalmopathy
  • Arthro-Ophthalmopathy
  • Epiphyseal changes andHigh myopia
  • Epiphyseal Changes and High Myopia
  • Hereditary Arthro-Ophthalmopathy
  • Ophthalmoarthropathy
  • Ophthalmoarthropathy
  • weissenbacher-Zweymuller syndrome
  • Weissenbacher-Zweymuller Syndrome

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.

Organizations related to Stickler Syndrome
  • Cleft Palate Foundation
    1504 East Franklin Street
    Chapel Hill NC 27514-2820
    Phone #: 919-933-9044
    800 #: 800-242-5338
    e-mail: [email protected]
    Home page: http://www.cleftline.org
  • European Skeletal Dysplasia Network (ESDN)
    Wellcome Trust Centre for Cell-Matrix Research
    Manchester None M13 9PT
    Phone #: 44 -161- 275 5642
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.esdn.org
  • Foundation Fighting Blindness (Canada)
    60 St. Clair Ave East
    Toronto, Ontario None M4T 1N5
    Phone #: 416--36-0-4200
    800 #: 800--46-1-3331
    e-mail: [email protected]
    Home page: http://www.ffb.ca
  • 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
  • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
    150 Custer Court
    Green Bay WI 54301-1243
    Phone #: 920-336-5333
    800 #: 877-336-5333
    e-mail: [email protected]
    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: [email protected]
    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: [email protected]
    Home page: http://www.niams.nih.gov/Health_Info
  • NIH/National Eye Institute
    Building 31 Rm 6A32
    Bethesda MD 20892-2510
    Phone #: 301-496-5248
    800 #: --
    e-mail: [email protected]
    Home page: http://www.nei.nih.gov/
  • 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
  • National Craniofacial Foundation
    3100 Carlisle Street
    Dallas TX 75204
    Phone #: --
    800 #: 800-535-3643
    e-mail: N/A
    Home page: N/A
  • 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
  • Pierre Robin Network
    3604 Biscayne
    Quincy IL 62305
    Phone #: 217-224-0698
    800 #: --
    e-mail: [email protected]
    Home page: http://www.pierrerobin.org
  • Stickler Involved People
    15 Angelina
    Augusta KS 67010
    Phone #: 316-775-2993
    800 #: --
    e-mail: [email protected]
    Home page: http://www.sticklers.org
  • Stickler Syndrome Support Group
    PO Box 371
    Surrey Intl KT12 2YS
    Phone #: 44 -193-2 267635
    800 #: --
    e-mail: [email protected]
    Home page: http://www.stickler.org.uk

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