Learn About Mccune-Albright Syndrome
McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues.
McCune-Albright syndrome is caused by a mutation in the GNAS gene. The GNAS gene provides instructions for making one part of a protein complex called a guanine nucleotide-binding protein, or a G protein.
McCune-Albright syndrome occurs in 1 in 100,000 to 1 in 1,000,000 people worldwide.
McCune-Albright syndrome is not inherited. Instead, it is caused by a random mutation in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of this disorder and its specific features depend on the number and location of cells that have the mutated GNAS gene. Affected individuals may have reproductive cells (eggs or sperm) with the mutation. However, a resulting embryo would have the mutation in every cell, which is thought to be incompatible with life, so the condition is not passed to the next generation.
CHU Edouard Herriot
Roland Chapurlat practices in Lyon, France. Chapurlat and is rated as an Elite expert by MediFind in the treatment of Mccune-Albright Syndrome. His top areas of expertise are Postmenopausal Osteoporosis, Osteoporosis, Fibrous Dysplasia, Osteitis Fibrosa, and Hip Replacement.
Massachusetts General Physicians Organization Inc
Michael Mannstadt is an Endocrinologist in Boston, Massachusetts. Dr. Mannstadt and is rated as an Elite provider by MediFind in the treatment of Mccune-Albright Syndrome. His top areas of expertise are Hypoparathyroidism, Mccune-Albright Syndrome, Autosomal Dominant Hypocalcemia, Hormone Replacement Therapy (HRT), and Parathyroidectomy.
Alison Boyce is a Pediatric Endocrinologist in Washington, Washington, D.c.. Dr. Boyce and is rated as an Elite provider by MediFind in the treatment of Mccune-Albright Syndrome. Her top areas of expertise are Osteitis Fibrosa, Fibrous Dysplasia, Mccune-Albright Syndrome, Nerve Decompression, and Splenectomy.
Summary: Polyostotic fibrous dysplasia (PFD) is a sporadic disorder which affects multiple sites in the skeleton. The bone at these sites is rapidly resorbed and replaced by abnormal fibrous tissue or mechanically abnormal bone. PFD may occur alone or as part of the McCune-Albright Syndrome (MAS), a syndrome originally defined by the triad of PFD, cafe-au-lait pigmentation of the skin, and precocious puber...
Summary: Fibrous Dysplasia/McCune-Albright syndrome (FD/MAS) is a rare disease, consisting of the replacement of normal bone tissue with fibrous tissue. FD lesions may be isolated in one or more bones or may be associated with endocrinopathies in McCune-Albright syndrome. Bone lesions constitute of weak bone tissue, leading to higher risk of fractures, pain and decreased quality of life. There is no cure f...
Published Date: January 01, 2018
Published By: National Institutes of Health