$Unique_ID{BRK03732} $Pretitle{} $Title{Fairbank Disease} $Subject{Fairbank Disease Multiple Epiphyseal Dysplasia Conradi-Hunermann Syndrome McCune-Albright Syndrome} $Volume{} $Log{} Copyright (C) 1987, 1990 National Organization for Rare Disorders, Inc. 359: Fairbank Disease ** IMPORTANT ** It is possible the main title of the article (Fairbank Disease) is not the name you expected. Please check the SYNONYMS listing to find the alternate names, disorder subdivisions, and related disorders covered by this article. Synonyms Multiple Epiphyseal Dysplasia Information on the following diseases can be found in the Related Disorders section of this report: Conradi-Hunermann Syndrome McCune-Albright 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. Fairbank Disease is a mild form of dwarfism inherited as a dominant trait. Symptoms may not be apparent during early childhood, but pain may later occur in hips, knees or ankles due to developmental abnormalities of bones in the hips. Stature may be only slightly shortened while arms, legs, fingers or toes may be unusually short. In some cases, movement may be somewhat restricted. Symptoms The most significant symptom of Fairbank Disease is the unusual bone modification in the hips, and less often, shoulders, feet or hands. The vertebrae are usually normal, but sometimes show minimal modifications. The upper end of the leg bones (femurs) including the cartilage tends to change in shape and density and then recover, reforming bone tissue. However, the bones may then be slightly shorter. This disorder usually is first noticed in children during the second to the fifth years of age due to waddling or awkward walking. From ages five to fourteen, patients may experience pain in hips, knees or ankles due to continuing changes in bone structure. Causes Fairbank Disease is inherited as a dominant trait. (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 Fairbank Disease is present at birth and is usually diagnosed between the ages of two and five years. This mild form of dwarfism is a lifelong condition and can affect males and females in equal numbers. Related Disorders There are at least ten different forms of Dysplasia affecting bone structure formations, with different symptom combinations. Many of these disorders produce dwarfism to some degree. Conradi-Hunermann Syndrome (Chondrodysplasia Punctata) also involves bone modification of the upper leg bone (femoral) but is more serious and encompassing than Fairbank Disease. Present at birth, Conradi-Hunermann Syndrome is marked by low birth weight, progressive shortening of arms or legs, short stature, scoliosis (which may develop as a patient approaches puberty), leg or hip joint contractions, and skin lesions or eruptions similar to acne. Mild forms of this disorder usually occur in girls, but do not cause growth restrictions. (For more information on this disorder, choose "Conradi" as your search term in the Rare Disease Database.) McCune-Albright Syndrome (Fibrous Dysplasia) is characterized by an early onset (precocious) sexual development, a change in bone integrity which produces pain, increasing disability, and a change in skin pigmentation. This syndrome affects the endocrine and musculoskeletal systems. The exact cause of this disorder is unknown at this time. (For more information on this disorder, choose "McCune-Albright" as your search term in the Rare Disease Database). Therapies: Standard Surgery of the hip may be indicated as treatment of Fairbank Disease to alleviate restriction of movement caused by modification of bone structure. Genetic counseling can be useful in families of patients with this disorder. Physical therapy can also be of benefit. Other treatment is symptomatic and supportive. Therapies: Investigational This disease entry is based upon medical information available through January 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 Fairbank Disease, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 International Center for Skeletal Dysplasia St. Joseph Hospital 7620 York Rd. Towson, MD 21204 (301) 337-1250 The Magic Foundation 1327 N. Harlem Ave. Oak Park, IL 60302 (708) 383-0808 Human Growth Foundation (HGF) 7777 Leesburg Pike P.O. Box 3090 Falls Church, VA 22043 (703) 883-1773 (800) 451-6434 Little People of America P.O. Box 633 San Bruno, CA 94066 (415) 589-0695 Parents of Dwarfed Children 11524 Colt Terrace Silver Spring, MD 20902 Short Stature Foundation 17200 Jamboree Rd., Suite J Irvine, CA 92714-5828 (714) 474-4554 800-24 DWARF Association for Research into Restricted Growth 2 Mount Court 81 Central Hill London SE 19 1 BS England 01 678 2984 NIH/National Institute of Child Health and Human Development 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5133 For information on genetics and genetic counseling referrals, please contact: March of Dimes Birth Defects Foundation 1274 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 MULTIPLE EPIPHYSEAL DYSPLASIA: A FAMILY STUDY: T. Gibson, et. al.; Rheumatol Rehabil (Nov. 1979, issue 18(4)). Pp. 239-242. THE EPIPHYSEAL DYSPLASIAS: J. Spranger; Clin Orthop (Jan.-Feb. 1976, issue 114). Pp.46-59.