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. Mr. Chapurlat 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.
The General Hospital Corporation
Michael Mannstadt is an Endocrinologist in Boston, Massachusetts. Dr. Mannstadt 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 Thyroidectomy.
Daniele Tessaris practices in Turin, Italy. Ms. Tessaris is rated as an Elite expert by MediFind in the treatment of Mccune-Albright Syndrome. Her top areas of expertise are Mccune-Albright Syndrome, Osteitis Fibrosa, Fibrous Dysplasia, and Pseudohypoparathyroidism.
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: The FD/MAS Patient Registry is an IRB-approved research study that that invites the patients and families to help answer some of the biggest questions about FD/MAS by completing questionnaires about their lives with FD or MAS. Have you enrolled in the FD/MAS Patient Registry yet? Are you up-to-date on your surveys? Take a trip to www.fdmasregistry.org today to learn more about the project, enroll,...
Published Date: January 01, 2018
Published By: National Institutes of Health