McCune-Albright syndrome
| McCune-Albright syndrome | |
| ICD-10 | Q78.1 |
|---|---|
| ICD-9 | 756.54 |
| OMIM | 174800 |
| DiseasesDB | 7880 |
| MedlinePlus | 001217 |
| eMedicine | ped/1386 |
| MeSH | D005359 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
McCune-Albright syndrome is a rare genetic disorder caused by an activating mutation of the GNAS gene resulting in various phenotypic presentations. MAS typically presents with the triad of polyostotic fibrous dysplasia, precocious puberty and café au lait spots in both genders. Other manifestations include hyperthyroidism, acromegaly and Cushing’s syndrome.[1]
Historical Perspective
McCune-Albright syndrome was first discovered by Donovan McCune and Fuller Albright, both physicians in 1937. [2]