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McCune-Albright Syndrome Fibrous Dysplasia Introduction

INTRODUCTION 

Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare disorder affecting the skin, endocrine system, and bones. It arises from a mutation in the GNAS gene.  In Fibrous Dysplasia /McCune-Albright Syndrome, the GNAS mutation is activating, meaning it causes the receptor to be stuck in the “on” position.  This causes excess signaling from the receptor, leading to the clinical features of Fibrous Dysplasia / McCune-Albright Syndrome. 

The clinical features of Fibrous dysplasia/McCune-Albright Syndrome involve disease in the following areas: 1) the skin, leading to pigmented café-au-lait macules, 2) the endocrine glands, leading to overproduction of hormones, and 3) the skeleton, resulting in areas of abnormal bone called fibrous dysplasia.  Patients may have one or many features of the disease, which may occur in any combination.

There is no cure for Fibrous dysplasia/McCune-Albright Syndrome.  However, many aspects of the disease can be managed with medications or surgery. 

ENDOCRINE ABNORMALITIES  

MAGIC is parents of affected children and some groups for affected adults. If you would like to talk with parents or affected adults-

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