Stickler Syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Stickler Syndrome is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Stickler syndrome refers to a group of disorders of connective tissue. Connective tissue, which is distributed throughout the body, can affect multiple organ systems. 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 upper lip (philtrum); palatal abnormalities, including cleft palate, bifid uvula or high arched palate; musculoskeletal problems including loose joints, scoliosis, chest deformities, a hip disorder of childhood (Legg-Calve-Perthe's disease); early onset degenerative osteoarthritis (onset before age 40 years by X-ray); and mitral valve prolapse. An affected person does not need to have all of these features. In fact, the clinical picture is typically variable even among affected people in the same family.

Four distinct forms of Stickler syndrome have been identified in the medical literature based on the 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 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).

Supporting Organizations

American Cleft Palate-Craniofacial Association

1504 East Franklin Street
Suite 102
Chapel Hill, NC 27514-2820
Tel: (919)933-9044
Fax: (919)933-9604
Tel: (800)242-5338

European Skeletal Dysplasia Network

Institute of Genetic Medicine
Newcastle University
Newcastle upon Tyne, NE1 3BZ
United Kingdom
Tel: 441612755642
Fax: 441612755082

Foundation Fighting Blindness (Canada)

890 Yonge Street, 12th Floor
Toronto, Ontario, M4W 3P4
Tel: 4163604200
Fax: 4163600060
Tel: 8004613331

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

Let Them Hear Foundation

1900 University Avenue, Suite 101
East Palo Alto, CA 94303
Tel: (650)462-3174
Fax: (650)462-3144

NIH/National Eye Institute

31 Center Dr
MSC 2510
Bethesda, MD 20892-2510
United States
Tel: (301)496-5248
Fax: (301)402-1065

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

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

Perkins School for the Blind

175 North Beacon Street
Watertown, MA 2472
Tel: (617)924-3434
Fax: (617)926-2027

Pierre Robin Network

3604 Biscayne
Quincy, IL 62305
Tel: (217)224-0698
Fax: (217)224-2867

Stickler Involved People

15 Angelina
Augusta, KS 67010
Tel: (316)775-2993

Stickler Syndrome Support Group

PO Box 3351
Littlehampton, BN16 9GB
United Kingdom
Tel: 1903785771

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

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.

Last Updated:  8/11/2015
Copyright  2015 National Organization for Rare Disorders, Inc.