$Unique_ID{BRK04237} $Pretitle{} $Title{Stickler Syndrome} $Subject{Stickler Syndrome Arthro-Ophthalmopathy Epiphyseal Changes and High Myopia Ophthalmoarthropathy Weissenbacher-Zweymuller Syndrome Marfan Syndrome Spondyloepiphyseal Dysplasia Congenita Wagner Syndrome } $Volume{} $Log{} Copyright (C) 1987, 1990, National Organization for Rare Disorders, Inc. 421: Stickler Syndrome ** IMPORTANT ** It is possible the main title of the article (Stickler Syndrome) is not the name you expected. Please check the SYNONYMS listing on the next page to find alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Arthro-Ophthalmopathy Epiphyseal Changes and High Myopia Ophthalmoarthropathy Weissenbacher-Zweymuller Syndrome Information on the following disorders can be found in the Related Disorders section of this report: Marfan Syndrome Spondyloepiphyseal Dysplasia Congenita Wagner Syndrome General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section of this report. Stickler Syndrome is a genetic disorder inherited as a dominant trait. This disorder is characterized by congenital abnormalities of the eye, a small jaw, and a cleft palate. Degenerative changes in some joints with bone abnormalities may occur early in life. With early treatment, the prognosis may be favorable. Symptoms Initial symptoms of Stickler Syndrome may include a broad, flat, sunken bridge of the nose which makes the face look flattened. A cleft palate and small jaw (the Pierre Robin anomaly) may also be present. In addition, sensorineural deafness may develop. Eye defects may include a high degree of nearsightedness (myopia), irregularities of the lens (astigmatism), and changes of the optic disk (where the optic nerve enters the retina). Cataracts, detachment of the retina and blindness may develop during the first decade of life. A form of glaucoma called glaucoma simplex may also occur. Bone abnormalities in joints such as the ankles, knees and wrists usually occur. During childhood, patients may experience stiffness and soreness after strenuous exercise. Swelling, redness and a feeling of heat may occur occasionally, leading to cracking (crepitation) and temporary locking of joints. Irregularities may be seen on X-rays of the joint surfaces, usually in the vertebral column and the knees. Incomplete dislocation (subluxation) of the hips is another frequent finding. Abnormal development of the cartilage at the ends of long bones (epiphyseal plate) may occur, and loose bony cartilage particles can be present in the joint. Joint hyperextensibility of the finger, knee, and elbow may occur as well as tapering fingers. Causes Stickler Syndrome is inherited as an autosomal dominant trait that may be expressed in mild, moderate or severe forms. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the normal gene and resulting in appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.) Affected Population Stickler Syndrome is a rare disorder which affects males as well as females. Related Disorders Symptoms of the following disorders can be similar to those of Stickler Syndrome. Comparisons may be useful for a differential diagnosis: Spondyloepiphyseal Dysplasia Congenita (SED Congenita) is a disorder with autosomal dominant inheritance with symptoms which can range from mild to severe. It is characterized by flat facial features, nearsightedness (myopia), retinal detachment, cleft palate, clubfoot, short-trunk dwarfism, a waddling gait and normally sized hands and feet. This disorder is often detectable at birth and may affect males and females in equal numbers. (For more information choose "SED Congenita" as your search term in the Rare Disease Database.) Wagner Syndrome is inherited as an autosomal dominant disorder that can be expressed in mild, moderate or severe form. It is characterized by facial abnormalities, an underdeveloped jaw, saddle nose, cleft palate, and vision abnormalities. Joint hyperextensibility in the fingers, elbows and knees, and hip deformities may also occur. Therapies: Standard Avoidance of excessive physical exertion including contact sports may prevent stiffness and soreness of ankles, knees, and wrists. Detached retinas may be surgically reattached. Genetic counseling will be helpful to families of children with Stickler Syndrome. Therapies: Investigational This disease entry is based upon medical information available through March 1990. 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. Resources For more information on Stickler Syndrome, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 Stickler Syndrome Support Group 27 Braycourt Ave. Walton on Thomas Surrey KT 12 2 AZ England The National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse Box AMS Bethesda, MD 20892 (301) 495-4484 NIH/National Eye Institute 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5248 For genetic information and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References MANAGEMENT OF RETINAL DETACHMENT IN THE WAGNER-STICKLER SYNDROME: B.M. Billington, et al.; Transactions Ophthalmol Soc UK (1985: issue 104, pt 8). Pp. 875-879. STICKLER'S SYNDROME OR HEREDITARY PROGRESSIVE ARTHRO-OPHTHALMOPATH: M. Vallat, et al.; Journal Fr Ophthalmol (1985: issue 8,4). Pp. 301-307. THE WAGNER-STICKLER SYNDROME: A STUDY OF 22 FAMILIES: R.M. Liberfarb, et al.; Journal Pediatrics (September 1981: issue 99,3). Pp. 394-399.