McCune Albright Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report McCune Albright Syndrome is not the name you expected.
McCune-Albright syndrome (MAS) is an extremely rare disorder that classically affects the bones, skin, and endocrine system. MAS is characterized by fibrous dysplasia of bone that occurs with at least two additional findings – patches of abnormal skin pigmentation (i.e., areas of light-brown skin [cafe-au-lait spots] with jagged borders) and dysfunction of certain glands that regulate the body's rate of growth, its sexual development, and certain other metabolic functions (multiple endocrine dysfunction). Fibrous dysplasia refers to bone that is replaced by abnormal scar-like (fibrous) connective tissue. This abnormal fibrous tissue weakens the bone, making it abnormally fragile and prone to fracture. Pain may occur in the affected areas. Malfunctioning endocrine glands can result in the development of secondary sexual characteristics at an age younger than normal (gonadotropin independent precocious puberty). MAS is the result of a genetic change (mutation) in the GNAS1 gene that occurs randomly, for no apparent reason (sporadic). In individuals with the disorder, this sporadic genetic mutation is present in only some of the body's cells (mosaic pattern). The symptoms and physical characteristics associated with the disorder vary greatly from case to case, depending upon the specific body cells and tissues that are affected by the genetic mutation. This mutation occurs after fertilization (postzygotic somatic mutation). It is not inherited from the parents.
Fibrous Dysplasia Foundation
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- Washington, DC 20003
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- Website: http://www.fibrousdysplasia.org
Genetic and Rare Diseases (GARD) Information Center
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- Website: http://www.magicfoundation.org
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
- Email: NIAMSinfo@mail.nih.gov
- Website: http://www.niams.nih.gov/
NIH/National Institute of Child Health and Human Development
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- Building 31, Room 2A32
- Bethesda, MD 20892
- Fax: (866)760-5947
- Tel: (800)370-2943
- Email: NICHDInformationResourceCenter@mail.nih.gov
- Website: http://www.nichd.nih.gov/
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 www.rarediseases.org 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.
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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: 11/20/2014
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