McCune Albright Syndrome - General Discussion

SYMPTOMS & TREATMENTS

McCune-Albright Syndrome (MAS) is a rare multisystem disorder characterized by (1) replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); (2) patches of abnormal skin pigmentation (i.e., areas of light-brown skin [cafe-au-lait spots] with jagged borders); abnormalities in the glands that regulate the body's rate of growth, its sexual development, and certain other metabolic functions (multiple endocrine dysfunction). Depending on the number and location of the skeletal abnormalities, mobility may be impaired, as well as vision and/or hearing, and the individual may experience substantial pain. Malfunctioning endocrine glands can result in the development of secondary sexual characteristics at an age younger than normal (precocious puberty).

McCune-Albright Syndrome is the result of a genetic change (mutation) 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.

The range of severity of the disorder is very broad: some children are diagnosed in early infancy with obvious anomalies of bone and increased hormone production by one or more of the endocrine glands; others show no evidence of bone, skin or endocrine malfunction in childhood and may enter puberty at an appropriate age.

This is an abstract of a report from the National Organization for Rare Disorders, Inc. (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 8/7/2007
Copyright 1986, 1987, 1988, 1991, 1992, 1994, 1995, 1997, 1999, 2002, 2007National Organization for Rare Disorders, Inc.

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