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Stickler Syndrome

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.


  • hereditary arthro-ophthalmopathy

Disorder Subdivisions

  • Stickler syndrome type I
  • Stickler syndrome type II
  • Stickler syndrome type III
  • Stickler syndrome type IV
  • Stickler syndrome type V

General Discussion

Stickler syndrome refers to a group of disorders of connective tissue. Connective tissue, which is distributed throughout the body, multiple organ systems can be affected. The specific symptoms present in Stickler syndrome often vary greatly from one individual to another. Affected individuals may not have all of the symptoms .The eyes, ears, skeleton and joints are most often affected. Affected individuals may also have distinctive facial features and palate abnormalities.

One of the first signs in Stickler syndrome is nearsightedness (myopia), in which objects close by are seen clearly but objects that are far away appear blurry. Myopia may vary from mild to severe in Stickler syndrome, but generally is not progressive (does not get worse). Myopia may be detectable shortly after birth, but the onset varies and may not develop until adolescence or even adulthood in some cases.

Stickler syndrome is characterized by the following clinical features: vitreoretinal degeneration, myopia, cataracts, retinal holes and detachments, sensorineural hearing loss, a characteristic facial appearance with mid facial flatness, small chin, long philtrum; palatal abnormalities, including cleft palate, bifid uvula or high arched palate; musculoskeletal problems including loose joints, scoliosis, chest deformities, Legg-Calve-Perthe's disease; early onset degenerative osteoarthritis (onset before age 40 years by xray); and mitral valve prolapse. An affected person does not need to have all of these features. In fact, the clinical picture is very variable even among affected people in the same family.

Four distinct forms of Stickler syndrome have been identified in the medical literature based on location of the mutated gene and inheritance pattern and at least one other form exists with an as yet unknown mutation location.

Stickler syndrome was first described in the medical literature in 1965 and 1965 by Gunnar Stickler et al., who called the disorder hereditary progressive arthro-ophthalmopathy. Stickler syndrome refers to a group of disorders of connective tissue. 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).


Cleft Palate Foundation

1504 East Franklin Street

Suite 102

Chapel Hill, NC 27514-2820


Tel: (919)933-9044

Fax: (919)933-9604

Tel: (800)242-5338



Stickler Syndrome Support Group

PO Box 3351

Littlehampton, BN16 9GB

United Kingdom

Tel: 01903785771



Stickler Involved People

15 Angelina

Augusta, KS 67010

Tel: (316)775-2993



NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse

One AMS Circle

Bethesda, MD 20892-3675


Tel: (301)495-4484

Fax: (301)718-6366

Tel: (877)226-4267

TDD: (301)565-2966



NIH/National Eye Institute

31 Center Dr

MSC 2510

Bethesda, MD 20892-2510

United States

Tel: (301)496-5248

Fax: (301)402-1065



Pierre Robin Network

3604 Biscayne

Quincy, IL 62305


Tel: (217)224-0698

Fax: (217)224-2867



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223


Foundation Fighting Blindness (Canada)

890 Yonge Street, 12th Floor

Toronto, Ontario, M4W 3P4


Tel: 4163604200

Fax: 4163600060

Tel: 8004613331



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766



Let Them Hear Foundation

1900 University Avenue, Suite 101

East Palo Alto, CA 94303

Tel: (650)462-3174

Fax: (650)462-3144



Perkins School for the Blind

175 North Beacon Street

Watertown, MA 02472

Tel: (617)924-3434

Fax: (617)926-2027



National Consortium on Deaf-Blindness

The Teaching Research Institute

345 N. Monmouth Avenue

Monmouth, OR 97361

Tel: (800)438-9376

Fax: (503)838-8150

Tel: (800)438-9376

TDD: (800)854-7013



European Skeletal Dysplasia Network

Institute of Genetic Medicine

Newcastle University

International Centre for Life

Central Parkway

Newcastle upon Tyne, NE1 3BZ

United Kingdom

Tel: 441612755642

Fax: 441612755082



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to and click on Rare Disease Database under "Rare Disease Information".

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 or email

Last Updated:  1/19/2012

Copyright  1987, 1990, 1997, 2003, 2008, 2012 National Organization for Rare Disorders, Inc.

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