Mccune-Albright SyndromeSymptoms, Doctors, Treatments, Advances & More
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.
Massachusetts General Hospital
Michael Mannstadt is an Endocrinologist practicing medicine in Boston, Massachusetts. Dr. Mannstadt is rated as an Elite provider by MediFind in the treatment of Mccune-Albright Syndrome. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Hypoparathyroidism, Mccune-Albright Syndrome, Autosomal Dominant Hypocalcemia, Hormone Replacement Therapy (HRT), and Thyroidectomy.
CHU Edouard Herriot
Roland Chapurlat practices practicing medicine in Lyon, France. Mr. Chapurlat is rated as an Elite expert by MediFind in the treatment of Mccune-Albright Syndrome. He is also highly rated in 27 other conditions, according to our data. His clinical expertise encompasses Postmenopausal Osteoporosis, Osteoporosis, Fibrous Dysplasia, Osteitis Fibrosa, and Tissue Biopsy.
Natasha Dijkstra-Appelman practices practicing medicine in Leiden, Netherlands. Ms. Dijkstra-Appelman is rated as an Elite expert by MediFind in the treatment of Mccune-Albright Syndrome. She is also highly rated in 33 other conditions, according to our data. Her clinical expertise encompasses Fibrous Dysplasia, Mccune-Albright Syndrome, Osteitis Fibrosa, Parathyroidectomy, and Hormone Replacement Therapy (HRT).
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 is a benign, pseudotumoral, genetic but non-hereditary condition characterized by the presence of one or more areas of abnormal bone development in which the normal structure is replaced by fibrous tissue. It is an extremely heterogeneous condition, as it can be monostotic, polyostotic, or panostotic, or it may occur within the context of more complex syndromes such as McCune-Alb...
Published Date: January 01, 2018
Published By: National Institutes of Health