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. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- Albright syndrome
- osteitis fibrosa disseminata
- polyostotic, fibrous dysplasia
- precocious puberty with polyostotic fibrosis and abnormal pigmentation
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.
6645 W. North Avenue
Oak Park, IL 60302
P O Box 24432
Brooklyn, NY 11202
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Fibrous Dysplasia Foundation, Inc.
15 Browns Court SE
Washington, DC 20003
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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
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Last Updated: 11/20/2014
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